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

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Bibliographic Details
Title: Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
Authors: Yuan, Haiming1,2 (AUTHOR), Wang, Qingming1,2 (AUTHOR), Zeng, Xiumei1 (AUTHOR), He, Peiqing1,2 (AUTHOR), Xu, Wanfang1 (AUTHOR), Guo, Hongmei1 (AUTHOR), Liu, Yanhui1,2 (AUTHOR) yh523120@sina.com, Lin, Yangyang1 (AUTHOR) Doctoral523120@sina.com
Source: Orphanet Journal of Rare Diseases. 4/4/2022, Vol. 17 Issue 1, p1-7. 7p.
Database: Academic Search Ultimate
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Description
ISSN:17501172
DOI:10.1186/s13023-022-02306-9