ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

Böhm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O'Sullivan J, Szlauer A, Koch C, Baranello G, Mora M, Ripolone M, Violano R, Moggio M, Kingston H, Dawson T, DeGoede CG, Nixon J, Boland A, Deleuze JF, Romero N, Newman WG, Demaurex N, Laporte J

Open source

DOI: 10.1002/humu.23172
Published: 2017 Apr
Container: Human mutation
Publisher: Not recorded
Open access: unknown

Credibility signals

limited evidence Score 43/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1002/humu.23172,
  title = {ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.},
  author = {Böhm J and Bulla M and Urquhart JE and Malfatti E and Williams SG and O'Sullivan J and Szlauer A and Koch C and Baranello G and Mora M and Ripolone M and Violano R and Moggio M and Kingston H and Dawson T and DeGoede CG and Nixon J and Boland A and Deleuze JF and Romero N and Newman WG and Demaurex N and Laporte J},
  year = {2017},
  journal = {Human mutation},
  doi = {10.1002/humu.23172},
  url = {https://doi.org/10.1002/humu.23172}
}

RIS

TY  - JOUR
TI  - ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
AU  - Böhm J
AU  - Bulla M
AU  - Urquhart JE
AU  - Malfatti E
AU  - Williams SG
AU  - O'Sullivan J
AU  - Szlauer A
AU  - Koch C
AU  - Baranello G
AU  - Mora M
AU  - Ripolone M
AU  - Violano R
AU  - Moggio M
AU  - Kingston H
AU  - Dawson T
AU  - DeGoede CG
AU  - Nixon J
AU  - Boland A
AU  - Deleuze JF
AU  - Romero N
AU  - Newman WG
AU  - Demaurex N
AU  - Laporte J
PY  - 2017
JO  - Human mutation
DO  - 10.1002/humu.23172
UR  - https://doi.org/10.1002/humu.23172
ER  -

APA

J, B., M, B., JE, U., E, M., SG, W., J, O., A, S., C, K., G, B., M, M., M, R., R, V., M, M., H, K., T, D., CG, D., J, N., A, B., JF, D., N, R., WG, N., N, D., & J, L. (2017). ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.. Human mutation. https://doi.org/10.1002/humu.23172

Source records

pubmed · retrieved 2026-09-27T00:40:09.557Z