Varaico: Literature-Extracted Genetic Variants

Gene:STRA6
Variant:p.D17fs
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STRA6

NM_022369.4:p.D17fs

Associated Papers

Perinatal palliative care for family with prenatal diagnosis of Matthew-Wood syndrome.

Korzeniewska-Eksterowicz A et al.

Journal of Genetic Counseling, 2024

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

Nedelec B et al.

Human Genetics, 2019

Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome.

Sadowski S et al.

Birth Defects Research, 2017

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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."