Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.H435Y
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FKRP

NM_024301.5:p.H435Y

Associated Papers

[Clinical features and FKRP mutations of congenital muscular dystrophy 1C].

Hong XW et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."