Varaico: Literature-Extracted Genetic Variants

Gene:STIL
Variant:p.L798V
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STIL

NM_001048166.1:p.L798V

Associated Papers

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

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."