Varaico: Literature-Extracted Genetic Variants

Gene:PHF8
Variant:p.K498R
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PHF8

NM_015107.3:p.K498R

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-s006.xlsx › ST1b_-_Case_23042_-homo_Unique
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