Varaico: Literature-Extracted Genetic Variants

Gene:FGD1
Variant:p.A316fs
Back to variants list

FGD1

NM_004463.3:p.A316fs

Associated Papers

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."