Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A5
Variant:p.Q44H
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SLC25A5

NM_001152.5:p.Q44H

Associated Papers

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.

Faridi R et al.

Genes, 2024

39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-Table_S4.xlsx › PKDF1419_SumandMuh_121423_Genet

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Li Y et al.

Frontiers in Oncology, 2022

36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1

Proteogenomic Analysis Unveils the HLA Class I-Presented Immunopeptidome in Melanoma and EGFR-Mutant Lung Adenocarcinoma.

Qi YA et al.

Molecular & Cellular Proteomics : Mcp, 2021

34391887 (PubMed )
Supplement: mmc3.xlsx › RA007.all.somatic

Proteogenomics of Colorectal Cancer Liver Metastases: Complementing Precision Oncology with Phenotypic Data.

Blank-Landeshammer B et al.

Cancers, 2019

31805664 (PubMed )
Supplement: cancers-11-01907-s001.zip › cancers-645556-suppl-XML › cancers-645556-suppl-Table_S1.xlsx › WT
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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."