Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.K18*
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USH1G

NM_173477.5:p.K18*

Associated Papers

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Bouzidi A et al.

Orphanet Journal of Rare Diseases, 2022

35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM3_ESM.xlsx › Feuil1

Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.

Ben-Rebeh I et al.

Molecular Vision, 2016

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

Riahi Z et al.

Plos One, 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."