Varaico: Literature-Extracted Genetic Variants

Gene:FGD1
Variant:p.E380*
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FGD1

NM_004463.3:p.E380*

Associated Papers

The Co-Occurrence of Autism Spectrum Disorder and Aarskog-Scott Syndrome in an Accomplished Young Man.

Romanova RS et al.

Pediatric Reports, 2025

40700061 (PubMed )
Supplement: pediatrrep-17-00073-s001.zip › pediatrrep-3543018-supplementary.xlsx › Sheet_1

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

Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome.

Pérez-Coria M et al.

Molecular Genetics & Genomic Medicine, 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."