Varaico: Literature-Extracted Genetic Variants

Gene:FGD1
Variant:p.L464_K465insFs
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FGD1

NM_004463.3:p.L464_K465insFs

Associated Papers

Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.

Völter C et al.

European Journal of Pediatrics, 2014

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

Orrico A et al.

American Journal of Medical Genetics. Part A, 2010

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

Orrico A et al.

European Journal of Human Genetics : Ejhg, 2004

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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."