Varaico: Literature-Extracted Genetic Variants

Gene:ZIC1
Variant:p.Q389*
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ZIC1

NM_003412.4:p.Q389*

Associated Papers

An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.

Chen J et al.

Frontiers in Genetics, 2022

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

ZIC1 Function in Normal Cerebellar Development and Human Developmental Pathology.

Aruga J et al.

Advances in Experimental Medicine and Biology, 2018

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

Twigg SR et al.

American Journal of Human Genetics, 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."