Varaico: Literature-Extracted Genetic Variants

Gene:FGF8
Variant:p.Q216E
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FGF8

NM_033163.5:p.Q216E

Associated Papers

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Fang Q et al.

Endocrine Reviews, 2016

Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.

Zeidler C et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2014

Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.

McCabe MJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

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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."