Varaico: Literature-Extracted Genetic Variants

Gene:RPTOR
Variant:p.G801Splc
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RPTOR

NM_020761.3:p.G801Splc

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 › ST1a-Case_23042_-hetero-Unique
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