Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.G528V
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COL5A1

NM_000093.5:p.G528V

Associated Papers

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
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