Varaico: Literature-Extracted Genetic Variants

Gene:STIL
Variant:p.K786fs
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STIL

NM_001048166.1:p.K786fs

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

Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.

Cristofoli F et al.

Molecular Syndromology, 2017

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.

Mouden C et al.

Plos One, 2015

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