Varaico: Literature-Extracted Genetic Variants

Gene:FGD1
Variant:p.W447*
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FGD1

NM_004463.3:p.W447*

Associated Papers

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.

Turgut GT et al.

Clinical Genetics, 2025

A novel frameshift mutation in the FGD1 gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report.

Jia H et al.

Translational Pediatrics, 2021

The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.

Zanetti Drumond V et al.

Genetics Research, 2021

33762894 (PubMed )
Supplement: 6652957.f1.pdf

CHIPS for genetic testing to improve a regional clinical genetic service.

Niida Y et al.

Clinical Genetics, 2015

Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.

Orrico A et al.

European Journal of Human Genetics : Ejhg, 2015

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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."