Varaico: Literature-Extracted Genetic Variants

Gene:STIL
Variant:p.G717E
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STIL

NM_001048166.1:p.G717E

Associated Papers

Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.

Asif M et al.

Cells, 2023

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

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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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."