Varaico: Literature-Extracted Genetic Variants

Gene:CHRND
Variant:p.N23I
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CHRND

NM_000751.3:p.N23I

Associated Papers

The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.

Cocanougher BT et al.

Hgg Advances, 2024

38566418 (PubMed )
Supplement: mmc1.pdf
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