Varaico: Literature-Extracted Genetic Variants

Gene:FGD1
Variant:p.R610*
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FGD1

NM_004463.3:p.R610*

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

Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study.

Liang Y et al.

Frontiers in Genetics, 2022

Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication.

Pavone P et al.

Bmj Case Reports, 2020

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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."