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Development of RS1-Specific ACMG/AMP Variant Classification Criteria With Pilot Variant Curation

Development of RS1-Specific ACMG/AMP Variant Classification Criteria With Pilot Variant Curation

Authors: Hull S, Mero M, Hankey W, Lee K, Sullivan LS, Ayyagari R, Benson MD, Haer-Wigman L, Hufnagel RB, Hussain HMJ, Kämpjärvi K, Sieving PA, Wang M, Wang G, Zeitz C, Lewis RA, Chen R, Worley KC

Citation: Hum Genet. 2026 Sep 4;145(1):75. doi: 10.1007/s00439-026-02871-0.

Specialties: Genetics, Ophthalmology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics

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