Varaico: Literature-Extracted Genetic Variants

Gene:SMOC1
Variant:p.E222Splc
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SMOC1

NM_001034852.3:p.E222Splc

Associated Papers

Ophthalmo-acromelic syndrome in an infant.

Ürel-Demir G et al.

European Journal of Medical Genetics, 2019

SMOC1 is essential for ocular and limb development in humans and mice.

Okada I 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."