Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.L217fs
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POU3F4

NM_000307.5:p.L217fs

Associated Papers

Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III.

Chen Y et al.

Orphanet Journal of Rare Diseases, 2022

Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.

Mei X et al.

Neural Plasticity, 2021

Nonsyndromic X-linked hearing loss.

Song MH et al.

Frontiers in Bioscience (elite Edition), 2012

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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."