Varaico: Literature-Extracted Genetic Variants

Gene:PRAMEF10
Variant:p.W253*
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PRAMEF10

NM_001039361.4:p.W253*

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

Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Nastase A et al.

Scientific Reports, 2021

34580349 (PubMed )
Supplement: 41598_2021_98414_MOESM2_ESM.xlsx › Table_4_WGS_cell_

Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.

Khan S et al.

Bmc Research Notes, 2021

33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1B-6.xlsx › Supplementary_File_1B-6.exonic_
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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."