Varaico: Literature-Extracted Genetic Variants

Gene:STRA6
Variant:p.Q592*
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STRA6

NM_022369.4:p.Q592*

Associated Papers

Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.

Nedelec B et al.

Human Genetics, 2019

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

Marcadier JL et al.

American Journal of Medical Genetics. Part A, 2016

A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.

Ng WY et al.

Clinical Genetics, 2013

Eye development genes and known syndromes.

Slavotinek AM

Molecular Genetics and Metabolism, 2011

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.

Chassaing N et al.

Human Mutation, 2009

Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

White T et al.

Molecular Vision, 2008

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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."