CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related
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DOI: 10.1002/humu.24421
Abstract: The investigated intronic CAPN3 variant NM_000070.3:c.1746‐20C>G occurs in the Central and Eastern Europe with a frequency of >1% and there are conflicting interpretations on its pathogenicity. We collected data on 14 patients carrying the CAPN3… read more here.
Keywords: calpain related; 20c variant; capn3 1746; 1746 20c ... See more keywords