American journal of medical genetics. Part A
A Novel Intronic Variant in FRMPD4 Disrupts Splicing: Case Report of an X-Linked Neurodevelopmental Disorder.
Tomoko Satake, Yasuhiro Kawai, Koki Nagai, Takuya Naruto, Yukiko Kuroda
Published: 202510.1002/ajmg.a.64306
Abstract
FRMPD4, a gene on the X-chromosome, encodes a neuronal scaffold protein, and six variants in this gene have been associated with X-linked neurodevelopmental disorder. We identified a novel intronic hemizygous variant (NM_014728.3:c.1198-6C>A) in FRMP…
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