Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.K290N
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POU3F4

NM_000307.5:p.K290N

Associated Papers

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.

Feng H et al.

Orphanet Journal of Rare Diseases, 2024

Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.

Bernardinelli E et al.

Biomedicines, 2023

A New Pathogenic Variant in POU3F4 Causing Deafness Due to an Incomplete Partition of the Cochlea Paved the Way for Innovative Surgery.

Tekin AM et al.

Genes, 2021

Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers.

Giannantonio S et al.

International Journal of Pediatric Otorhinolaryngology, 2020

Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia.

Herling CD et al.

Nature Communications, 2018

29463802 (PubMed )
Supplement: 41467_2018_3170_MOESM4_ESM.xlsx › Somatic_Mutations
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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."