Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.V174delFs
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CAPN3

NM_000070.3:p.V174delFs

Associated Papers

A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein.

Gouveia TL et al.

Journal of Molecular Medicine (berlin, Germany), 2007

Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations.

Gouveia TL et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2006

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.

Moreira ES et al.

Journal of Medical Genetics, 2003

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