Varaico: Literature-Extracted Genetic Variants

Gene:FREM1
Variant:p.Y285C
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FREM1

NM_001379081.2:p.Y285C

Associated Papers

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

Vissers LE et al.

Plos Genetics, 2011

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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."