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Additional file 1 of Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8

Authors :
Yuan, Haiming
Wang, Qingming
Zeng, Xiumei
He, Peiqing
Xu, Wanfang
Guo, Hongmei
Liu, Yanhui
Lin, Yangyang
Publication Year :
2022
Publisher :
figshare, 2022.

Abstract

Additional file 1. Table S1. Estimated pathogenic variants in KLHL40 in our local database on ACMG guidelines. Table S2. Estimated pathogenic or likely pathogenic variants in KLHL40 in Chigene database on ACMG guidelines.

Details

Database :
OpenAIRE
Accession number :
edsair.doi.dedup.....9710fd49d448aa5d81d7a77b057d9f27
Full Text :
https://doi.org/10.6084/m9.figshare.19518227