Varaico: Literature-Extracted Genetic Variants

Gene:KIF11
Variant:p.S936_L938Fs
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KIF11

NM_004523.4:p.S936_L938Fs

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

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Jones GE et al.

European Journal of Human Genetics : Ejhg, 2014

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