Varaico: Literature-Extracted Genetic Variants

Gene:STRA6
Variant:p.L111L
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STRA6

NM_022369.4:p.L111L

Associated Papers

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

White T et al.

Molecular Vision, 2008

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

Golzio C et al.

American Journal of Human Genetics, 2007

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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."