Varaico: Literature-Extracted Genetic Variants

Gene:SARDH
Variant:p.G49G
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SARDH

NM_001134707.2:p.G49G

Associated Papers

A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.

Zheng J et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2017

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Kley RA et al.

Brain : a Journal of Neurology, 2007

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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."