Varaico: Literature-Extracted Genetic Variants

Gene:SCAF11
Variant:p.S474insFs
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SCAF11

NM_004719.3:p.S474insFs

Associated Papers

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.

Cerruti Mainardi P et al.

Journal of Medical Genetics, 2004

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

Cacheux V et al.

Human Molecular 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."