Varaico: Literature-Extracted Genetic Variants

Gene:MYH3
Variant:p.K504N
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MYH3

NM_002470.4:p.K504N

Associated Papers

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.

Morali B et al.

Clinical Genetics, 2024

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.

Zhao S et al.

Npj Genomic Medicine, 2022

Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.

Wang WB et al.

Molecular Medicine Reports, 2020

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.

Beck AE et al.

American Journal of Medical Genetics. Part A, 2013

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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."