Varaico: Literature-Extracted Genetic Variants

Gene:FGF8
Variant:p.D73H
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FGF8

NM_033163.5:p.D73H

Associated Papers

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

Hong S et al.

Human Molecular Genetics, 2018

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

Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.

Leslie EJ et al.

Clinical Genetics, 2013

Role of FGFs/FGFRs in skeletal development and bone regeneration.

Du X et al.

Journal of Cellular Physiology, 2012

Development of the lip and palate: FGF signalling.

Stanier P et al.

Frontiers of Oral Biology, 2012

Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.

Miraoui H et al.

Molecular and Cellular Endocrinology, 2011

Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.

Trarbach EB et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans.

Arauz RF et al.

Molecular Syndromology, 2010

FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate.

Pauws E et al.

Trends in Genetics : Tig, 2007

Impaired FGF signaling contributes to cleft lip and palate.

Riley BM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

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