Varaico: Literature-Extracted Genetic Variants

Gene:SRSF4
Variant:p.G36Splc
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SRSF4

NM_005626.5:p.G36Splc

Associated Papers

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

Musumeci O et al.

Neuromuscular Disorders : Nmd, 2015

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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."