Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.C341W
Back to variants list

FGFR1

NM_023110.3:p.C341W

Associated Papers

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.

Simonis N et al.

Journal of Medical Genetics, 2013

Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations.

Bailleul-Forestier I et al.

International Journal of Paediatric Dentistry, 2010

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."