Varaico: Literature-Extracted Genetic Variants

Gene:FRMD4A
Variant:p.S711_Q715insFs
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FRMD4A

NM_018027.5:p.S711_Q715insFs

Associated Papers

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.

Fine D et al.

European Journal of Human Genetics : Ejhg, 2015

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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."