Varaico: Literature-Extracted Genetic Variants

Gene:FGF8
Variant:p.R127*
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FGF8

NM_033163.5:p.R127*

Associated Papers

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

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

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

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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."