Varaico: Literature-Extracted Genetic Variants

Gene:SCAF11
Variant:p.E213G
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SCAF11

NM_004719.3:p.E213G

Associated Papers

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

Grohmann K et al.

Nature Genetics, 2001

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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."