Varaico: Literature-Extracted Genetic Variants

Gene:PSMD4
Variant:p.E4G
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PSMD4

NM_002810.4:p.E4G

Associated Papers

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

Cartegni L et al.

Nature Genetics, 2002

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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."