Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A10
Variant:p.G397R
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SLC2A10

NM_030777.4:p.G397R

Associated Papers

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.

Kappanayil M et al.

Orphanet Journal of Rare Diseases, 2012

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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."