Varaico: Literature-Extracted Genetic Variants

Gene:FGD1
Variant:p.P312S
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FGD1

NM_004463.3:p.P312S

Associated Papers

A novel KDM5C variant corrects a previously erroneous diagnosis.

Chapin J et al.

European Journal of Medical Genetics, 2025

Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.

Zamboni V et al.

International Journal of Molecular Sciences, 2018

No association between FGD1 gene polymorphisms and intellectual developmental disability in the Qinba mountain area.

Li JL et al.

Genetics and Molecular Research : Gmr, 2014

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.

Lebel RR et al.

Clinical Genetics, 2002

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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."