Varaico: Literature-Extracted Genetic Variants

Gene:SMOC1
Variant:p.Q92*
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SMOC1

NM_001034852.3:p.Q92*

Associated Papers

Genotypic and phenotypic spectrum of anophthalmia/microphthalmia in families from Khyber Pakhtunkhwa, Pakistan.

Dawood M et al.

Journal of Human Genetics, 2025

Ophthalmo-acromelic syndrome in an infant.

Ürel-Demir G et al.

European Journal of Medical Genetics, 2019

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

Rainger J et al.

Plos Genetics, 2018

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

Rainger J et al.

Plos Genetics, 2011

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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."