Varaico: Literature-Extracted Genetic Variants

Gene:STRA6
Variant:p.Q309_V310Splc
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STRA6

NM_022369.4:p.Q309_V310Splc

Associated Papers

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

Kantarci S et al.

Nature 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."