Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP10-5
Variant:p.C183F
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KRTAP10-5

NM_198694.3:p.C183F

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes.

Liu Z et al.

Genetic Testing and Molecular Biomarkers, 2024

38837151 (PubMed )
Supplement: sj-pdf-3-gtm-10.1089_gtmb.2023.0263.pdf

Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.

Jiang P et al.

Frontiers in Genetics, 2019

31440271 (PubMed )
Supplement: Table_1.xlsx › SS-based_coding_variants

Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis.

Kishore A et al.

Human Genetics, 2018

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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."