Varaico: Literature-Extracted Genetic Variants

Gene:FGF8
Variant:p.V146I
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FGF8

NM_033164.4:p.V146I

Associated Papers

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s006.xlsx › Sheet1

Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.

Hong S et al.

Human Molecular Genetics, 2018

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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."