Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.A227T
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COL17A1

NM_000494.4:p.A227T

Associated Papers

Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome.

Fabbri G et al.

The Journal of Experimental Medicine, 2013

24127483 (PubMed )
Supplement: supp_jem.20131448_JEM_20131448_TableS2.xlsx › TableS2

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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