Varaico: Literature-Extracted Genetic Variants

Gene:KLHL40
Variant:p.A211delFs
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KLHL40

NM_152393.4:p.A211delFs

Associated Papers

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.

Yi S et al.

Molecular Genetics & Genomic Medicine, 2021

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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."