Varaico: Literature-Extracted Genetic Variants

Gene:SMOC1
Variant:p.E237*
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SMOC1

NM_001034852.3:p.E237*

Associated Papers

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.

Mancini C et al.

European Journal of Medical Genetics, 2019

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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."