Varaico: Literature-Extracted Genetic Variants

Gene:FGD1
Variant:p.C756insFs
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FGD1

NM_004463.3:p.C756insFs

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

Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features.

Bayat A et al.

American Journal of Medical Genetics. Part A, 2022

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