Varaico: Literature-Extracted Genetic Variants

Gene:FGF8
Variant:p.R44W
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FGF8

NM_033163.5:p.R44W

Associated Papers

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

Slavotinek AM et al.

Hgg Advances, 2024

38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2

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."