Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF2
Variant:p.R1212*
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RAPGEF2

NM_014247.5:p.R1212*

Associated Papers

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder.

Bereshneh AH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026

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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."