Varaico: Literature-Extracted Genetic Variants

Gene:SNAP23
Variant:p.P130insFs
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SNAP23

NM_003825.4:p.P130insFs

Associated Papers

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

McDonald-McGinn DM et al.

Journal of Medical Genetics, 2013

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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."