Varaico: Literature-Extracted Genetic Variants

Gene:C8B
Variant:p.W452S
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C8B

NM_000066.4:p.W452S

Associated Papers

A multi-omics analysis of pancreatitis: bridging familial genetics and disease progression.

Li F et al.

Frontiers in Immunology, 2025

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families

MBASED: allele-specific expression detection in cancer tissues and cell lines.

Mayba O et al.

Genome Biology, 2014

25315065 (PubMed )
Supplement: 13059_2014_405_MOESM3_ESM.xlsx › FunctionalSomaticMutations
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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."