日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework

通过将系统性功能分析的结果整合到基于ACMG评分的框架中,对意义未明的ATM错义变异进行重新分类

Helmut Hanenberg # ,Fan Zhang # ,Nikita Malev ,Constanze Wiek ,Brett G Klamer ,Nicolas Nassar ,Tyler Hesselbrock ,Judith H Hanenberg ,Amber M Aeilts ,Julia Hentschel ,Ulrike Faust ,Andrea Gehrig ,Christoph Engel ,Jan Hauke ,Dieter Niederacher ,Amanda E Toland ,Paul R Andreassen