Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.H133fs
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MYO7A

NM_000260.4:p.H133fs

Associated Papers

Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.

Kabahuma RI et al.

Genes, 2021

Retinal disease course in Usher syndrome 1B due to MYO7A mutations.

Jacobson SG et al.

Investigative Ophthalmology & Visual Science, 2011

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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."