Varaico: Literature-Extracted Genetic Variants

Gene:STIL
Variant:p.L798W
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STIL

NM_001048166.1:p.L798W

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

STIL microcephaly mutations interfere with APC/C-mediated degradation and cause centriole amplification.

Arquint C et al.

Current Biology : Cb, 2014

Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations.

Papari E et al.

Clinical Genetics, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."