Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
复制标题
庞贝病的变异分类；
DOI：
10.1016/j.ymgme.2023.107715
复制
发表时间：
2023
影响因子：
3.8
通讯作者：
Caggana
中科院分区：
文献类型：
--
作者：
Goldstein,JenniferL;McGlaughon,Jennifer;Kanavy,Dona;Goomber,Shelly;Pan,Yinghong;Deml,Brett;Donti,Taraka;Kearns,Liz;Seifert,BryceA;Schachter,Miriam;Son,RachelG;Thaxton,Courtney;Udani,Rupa;Bali,Deeksha;Baudet,Heather;Caggana
