Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0825
Variant:p.L17S
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KIAA0825

NM_001145678.3:p.L17S

Associated Papers

Alternative start codon selection shapes mitochondrial function and rare human diseases.

Ly J et al.

Molecular Cell, 2025

41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMC5.xlsx › Missense_ISAs

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.

Ahmad S et al.

Genes, 2023

Genetic overview of postaxial polydactyly: Updated classification.

Ahmad Z et al.

Clinical Genetics, 2023

A review of polydactyly and its inheritance: Connecting the dots.

Bubshait DK

Medicine, 2022

Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A.

Yao Y et al.

Genes, 2022

A Frameshift Variant in KIAA0825 Causes Postaxial Polydactyly.

Bilal M et al.

Molecular Syndromology, 2021

Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.

Hayat A et al.

Genomics, 2020

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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."