Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance.

Autor: So, Min-Kyung1 (AUTHOR) mkso@ewha.ac.kr, Jung, Gaeul2 (AUTHOR) mystum@naver.com, Koh, Hyun-Jeong2 (AUTHOR) kwsa.hjkoh@gmail.com, Park, Sholhui1 (AUTHOR) solheepark@ewha.ac.kr, Jeong, Tae-Dong1 (AUTHOR) tdjeong@ewha.ac.kr, Huh, Jungwon1,2 (AUTHOR) jungwonh@ewha.ac.kr
Zdroj: Diagnostics (2075-4418). Dec2024, Vol. 14 Issue 24, p2821. 11p.
Databáze: Academic Search Ultimate
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