Varaico: Literature-Extracted Genetic Variants

Gene:FGF8
Variant:p.T119M
Back to variants list

FGF8

NM_033163.5:p.T119M

Associated Papers

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

Hong S et al.

Human Molecular Genetics, 2018

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.

Dubourg C et al.

Human Mutation, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."