Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel
出版年份 2023 全文链接
标题
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel
作者
关键词
-
出版物
MOLECULAR GENETICS AND METABOLISM
Volume -, Issue -, Pages 107715
出版商
Elsevier BV
发表日期
2023-10-27
DOI
10.1016/j.ymgme.2023.107715
参考文献
相关参考文献
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