Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.G732_F735delFs
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USH2A

NM_206933.4:p.G732_F735delFs

Associated Papers

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.

Delmaghani S et al.

Human Genetics, 2022

A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.

Fahimi H et al.

Bmc Medical Genomics, 2021

PDZD7 and hearing loss: More than just a modifier.

Booth KT et al.

American Journal of Medical Genetics. Part A, 2015

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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."