Varaico: Literature-Extracted Genetic Variants

Gene:WHRN
Variant:p.G808fs
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WHRN

NM_015404.4:p.G808fs

Associated Papers

Novel pathogenic WHRN variant causing hearing loss in a moroccan family.

AitRaise I et al.

Molecular Biology Reports, 2023

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

Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.

Said MB et al.

Molecular Genetics & Genomic Medicine, 2022

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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."