Varaico: Literature-Extracted Genetic Variants

Gene:FGD1
Variant:p.C753G
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FGD1

NM_004463.3:p.C753G

Associated Papers

A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.

Takahashi I et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024

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