Varaico: Literature-Extracted Genetic Variants

Gene:UNC45A
Variant:p.R633W
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UNC45A

NM_018671.5:p.R633W

Associated Papers

Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity.

Fareed M et al.

Frontiers in Genetics, 2021

34113375 (PubMed )
Supplement: Data_Sheet_1.pdf

Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes.

Franaszczyk M et al.

Journal of Clinical Medicine, 2020

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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."