Varaico: Literature-Extracted Genetic Variants

Gene:STIL
Variant:p.R785insFs
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STIL

NM_001048166.1:p.R785insFs

Associated Papers

Novel compound heterozygous variants in the STIL gene identified in a Chinese family with presentation of foetal microcephaly.

Cheng C et al.

European Journal of Medical Genetics, 2020

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

Rasool S et al.

Molecular Genetics & Genomic Medicine, 2020

32677750 (PubMed )
Supplement: MGG3-8-e1408-s002.pdf

A prenatal presentation of severe microcephaly and brain anomalies in a patient with novel compound heterozygous mutations in the STIL gene found postnatally with exome analysis.

Bennett H et al.

Pediatric Neurology, 2014

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