Varaico: Literature-Extracted Genetic Variants

Gene:PSORS1C1
Variant:p.H40fs
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PSORS1C1

NM_014068.3:p.H40fs

Associated Papers

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_4

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

The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.

Gogate A et al.

Npj Genomic Medicine, 2024

39632905 (PubMed )
Supplement: 41525_2024_444_MOESM2_ESM.xlsx › Supplementary_Data_5

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development.

Jin HJ et al.

Elife, 2023

38126872 (PubMed )
Supplement: elife-92769-fig2-data1.zip › Figure_2-source_data_1 › Figure_2-source_data_1 › Figure_2-source_data_1.xlsx › Table
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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."