Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.G247S
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GMPPB

NM_021971.4:p.G247S

Associated Papers

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

Magri F et al.

Bmc Neurology, 2015

26404900 (PubMed )
Supplement: 12883_2015_428_MOESM1_ESM.pdf
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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."