Varaico: Literature-Extracted Genetic Variants

Gene:FRMPD4
Variant:p.R934C
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FRMPD4

NM_001368397.1:p.R934C

Associated Papers

A Novel Intronic Variant in FRMPD4 Disrupts Splicing: Case Report of an X-Linked Neurodevelopmental Disorder.

Satake T et al.

American Journal of Medical Genetics. Part A, 2025

Investigation of FRMPD4 variants associated with X-linked epilepsy.

Li RK et al.

Seizure, 2024

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