Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB6
Variant:p.F89L
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DNAJB6

NM_058246.4:p.F89L

Associated Papers

DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies.

Ruggieri A et al.

Frontiers in Molecular Biosciences, 2016

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

Ruggieri A et al.

Acta Neuropathologica Communications, 2015

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Sarparanta J et al.

Nature Genetics, 2012

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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."