Varaico: Literature-Extracted Genetic Variants

Gene:STIL
Variant:p.R242C
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STIL

NM_001048166.1:p.R242C

Associated Papers

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed

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

Cristofoli F et al.

Molecular Syndromology, 2017

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › S6T1

In silico prediction of a disease-associated STIL mutant and its affect on the recruitment of centromere protein J (CENPJ).

Kumar A et al.

Febs Open Bio, 2012

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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."