Varaico: Literature-Extracted Genetic Variants

Gene:MYH3
Variant:p.T178I
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MYH3

NM_002470.4:p.T178I

Associated Papers

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

Zhao S et al.

Npj Genomic Medicine, 2022

35169139 (PubMed )
Supplement: 41525_2021_273_MOESM2_ESM.pdf

Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.

Imafidon ME et al.

Frontiers in Pediatrics, 2021

Genotype-phenotype relationships in Freeman-Sheldon syndrome.

Beck AE et al.

American Journal of Medical Genetics. Part A, 2014

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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."