Varaico: Literature-Extracted Genetic Variants

Gene:KIF11
Variant:p.L468V
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KIF11

NM_004523.4:p.L468V

Associated Papers

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis.

Peng J et al.

Bmc Ophthalmology, 2025

40739497 (PubMed )
Supplement: 12886_2025_4261_MOESM1_ESM.xls › Supplement_1

A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR.

Güneş N et al.

Molecular Syndromology, 2019

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