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Article

Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 12 Dec 2023

Lin Jingqi, Li Niu, Yao Ru'en, Yu Tingting, Wang Xiumin, Wang Jian

Abstract excerpt

OBJECTIVES: To analyze the clinical and genetic characteristics of children with autosomal dominant neurodevelopmental disorders caused by kinesin family member 1A (KIF1A) gene variation. METHODS: Clinical and genetic testing data of 6 children with KIF1A gene de novo heterozygous variation diagnosed in Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine from the year...

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Identifiers

PMID: 38105687
DOI: 10.3724/zdxbyxb-2023-0457
PMCID: PMC10764188

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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