Varaico: Literature-Extracted Genetic Variants

Gene:COL6A1
Variant:p.L292L
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COL6A1

NM_001848.3:p.L292L

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 › ST2B-ClinVar_COL6A1
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