Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.

Geroldi A, Mammi A, Gaudio A, Patrone S, La Barbera A, Origone P, Ponti C, Sanguineri F, Massucco S, Marinelli L, Grandis M, Schenone A, Mandich P, Bellone E, Gotta F

Open source

DOI: 10.1136/jmg-2024-110019
Published: 2024 Aug 29
Container: Journal of medical genetics
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1136/jmg-2024-110019,
  title = {Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.},
  author = {Geroldi A and Mammi A and Gaudio A and Patrone S and La Barbera A and Origone P and Ponti C and Sanguineri F and Massucco S and Marinelli L and Grandis M and Schenone A and Mandich P and Bellone E and Gotta F},
  year = {2024},
  journal = {Journal of medical genetics},
  doi = {10.1136/jmg-2024-110019},
  url = {https://doi.org/10.1136/jmg-2024-110019}
}

RIS

TY  - JOUR
TI  - Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
AU  - Geroldi A
AU  - Mammi A
AU  - Gaudio A
AU  - Patrone S
AU  - La Barbera A
AU  - Origone P
AU  - Ponti C
AU  - Sanguineri F
AU  - Massucco S
AU  - Marinelli L
AU  - Grandis M
AU  - Schenone A
AU  - Mandich P
AU  - Bellone E
AU  - Gotta F
PY  - 2024
JO  - Journal of medical genetics
DO  - 10.1136/jmg-2024-110019
UR  - https://doi.org/10.1136/jmg-2024-110019
ER  -

APA

A, G., A, M., A, G., S, P., A, L. B., P, O., C, P., F, S., S, M., L, M., M, G., A, S., P, M., E, B., & F, G. (2024). Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.. Journal of medical genetics. https://doi.org/10.1136/jmg-2024-110019

Source records

pubmed · retrieved 2026-11-10T06:52:38.087Z