Varaico: Literature-Extracted Genetic Variants

Gene:COL5A2
Variant:p.R1294H
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COL5A2

NM_000393.5:p.R1294H

Associated Papers

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Leone MP et al.

Human Genetics, 2023

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s002.xlsx › Adenoma
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