Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.
- DOI
- 10.1007/s00439-026-02871-0
- Published
- 2026 Sep 4
- Container
- Human genetics
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1007/s00439-026-02871-0,
title = {Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.},
author = {Hull S and Mero M and Hankey W and Lee K and Sullivan LS and Ayyagari R and Benson MD and Haer-Wigman L and Hufnagel RB and Hussain HMJ and Kämpjärvi K and Sieving PA and Wang M and Wang G and Zeitz C and Lewis RA and Chen R and Worley KC and ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel},
year = {2026},
journal = {Human genetics},
doi = {10.1007/s00439-026-02871-0},
url = {https://doi.org/10.1007/s00439-026-02871-0}
}RIS
TY - JOUR TI - Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation. AU - Hull S AU - Mero M AU - Hankey W AU - Lee K AU - Sullivan LS AU - Ayyagari R AU - Benson MD AU - Haer-Wigman L AU - Hufnagel RB AU - Hussain HMJ AU - Kämpjärvi K AU - Sieving PA AU - Wang M AU - Wang G AU - Zeitz C AU - Lewis RA AU - Chen R AU - Worley KC AU - ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel PY - 2026 JO - Human genetics DO - 10.1007/s00439-026-02871-0 UR - https://doi.org/10.1007/s00439-026-02871-0 ER -
APA
S, H., M, M., W, H., K, L., LS, S., R, A., MD, B., L, H., RB, H., HMJ, H., K, K., PA, S., M, W., G, W., C, Z., RA, L., R, C., KC, W., & Panel, C. X. I. R. D. V. C. E. (2026). Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.. Human genetics. https://doi.org/10.1007/s00439-026-02871-0
Source records
- pubmed · retrieved 2026-09-25T01:56:53.018Z
- europe-pmc · retrieved 2026-09-25T01:56:53.036Z