Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.S1029A
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COL17A1

NM_000494.4:p.S1029A

Associated Papers

COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study.

Tong D et al.

Molecular and Clinical Oncology, 2022

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s13.pdf

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 › ST2C-clinvar_COL17A1
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