Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.A549V
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PEX6

NM_000287.4:p.A549V

Associated Papers

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

Adeyemo A et al.

European Journal of Human Genetics : Ejhg, 2022

34837038 (PubMed )
Supplement: 41431_2021_984_MOESM3_ESM.xlsx › Variants_detected

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

Expanding the clinical and genetic spectrum of Heimler syndrome.

Gao FJ et al.

Orphanet Journal of Rare Diseases, 2019

31831025 (PubMed )
Supplement: 13023_2019_1243_MOESM5_ESM.pdf

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Azaiez H et al.

American Journal of Human Genetics, 2018

30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Yik WY et al.

Human Mutation, 2009

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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."