Varaico: Literature-Extracted Genetic Variants

Gene:KLHL41
Variant:p.D34Y
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KLHL41

NM_006063.3:p.D34Y

Associated Papers

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.

van de Locht M et al.

The Journal of Clinical Investigation, 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."