Varaico: Literature-Extracted Genetic Variants

Gene:STRA6
Variant:p.A145_K147del3
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STRA6

NM_022369.4:p.A145_K147del3

Associated Papers

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

Pasutto F 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."