Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).

Autor: He, Qing‐bing1 (AUTHOR), Wu, Cai‐hong2 (AUTHOR), Sun, Dong‐lan3,4 (AUTHOR), Yuan, Jia‐yu1 (AUTHOR), Hu, Hua‐ying5 (AUTHOR), Yang, Kai6,7 (AUTHOR), Chen, Wen‐qi3,4 (AUTHOR), Yan, You‐sheng6,7 (AUTHOR), Yin, Guang‐yue2 (AUTHOR), Zhang, Jing3,4 (AUTHOR) zhangjing_hbyd_81@126.com, Li, Ya‐zhou1 (AUTHOR) lyz_hbsy@126.com
Zdroj: Molecular Genetics & Genomic Medicine. Mar2024, Vol. 12 Issue 3, p1-11. 11p.
Databáze: Academic Search Ultimate
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