Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.V206M
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COL5A1

NM_000093.5:p.V206M

Associated Papers

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.

Grelet M et al.

Orphanet Journal of Rare Diseases, 2019

Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.

McElroy A et al.

Journal of Veterinary Internal Medicine, 0

37594181 (PubMed )
Supplement: JVIM-37-1716-s005.xlsx › ST2A-ClinVar_COL5A1

Combined DNA Analysis from Stool and Blood Samples Improves Tumor Tracking and Assessment of Clonal Heterogeneity in Localized Rectal Cancer Patients.

Parigger T et al.

Technology in Cancer Research & Treatment, 0

38766867 (PubMed )
Supplement: sj-xlsx-1-tct-10.1177_15330338241252706.xlsx › biopsy_mutations
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