Varaico: Literature-Extracted Genetic Variants

Gene:MRPL30
Variant:p.K44_V45Splc
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MRPL30

NM_145212.4:p.K44_V45Splc

Associated Papers

A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy.

Lepori V et al.

G3 (bethesda, Md.), 2018

29491033 (PubMed )
Supplement: 1545TableS3.xlsx › Private_Variants
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