Varaico: Literature-Extracted Genetic Variants

Gene:SMOC1
Variant:p.Q126_V127Splc
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SMOC1

NM_001034852.3:p.Q126_V127Splc

Associated Papers

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Abouzeid H et al.

American Journal of Human Genetics, 2011

A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.

Ullah A et al.

Ophthalmic Genetics, 0

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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."