Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.G1319S
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COL17A1

NM_000494.4:p.G1319S

Associated Papers

Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.

Chen F et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

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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