Varaico: Literature-Extracted Genetic Variants

Gene:MYH3
Variant:p.D1622A
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MYH3

NM_002470.4:p.D1622A

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

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Chong JX et al.

American Journal of Human Genetics, 2015

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

Beck AE et al.

American Journal of Medical Genetics. Part A, 2013

Sheldon-Hall syndrome.

Toydemir RM et al.

Orphanet Journal of Rare Diseases, 2009

Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B.

Jiang M et al.

Prenatal Diagnosis, 2007

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.

Toydemir RM et al.

Nature Genetics, 2006

A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.

Zhao N et al.

European Journal of Medical Genetics, 0

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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."