Varaico: Literature-Extracted Genetic Variants

Gene:STYXL1
Variant:p.P311A
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STYXL1

NM_001317785.2:p.P311A

Associated Papers

STYXL1 regulates CCT complex assembly and flagellar tubulin folding in sperm formation.

Chen Y et al.

Nature Communications, 2024

38168070 (PubMed )
Supplement: 41467_2023_44337_MOESM2_ESM.pdf

A previously identified missense mutation in STYXL1 is likely benign.

Hengel H et al.

European Journal of Medical Genetics, 2019

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1
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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."