Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.F454S
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CAPN3

NM_000070.3:p.F454S

Associated Papers

Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.

Buzkova J et al.

Embo Molecular Medicine, 2018

30373890 (PubMed )
Supplement: EMMM-10-e9091-s004.xlsx › patients

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

Suomalainen A et al.

The Lancet. Neurology, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."