Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.G86_G92ins2
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TWIST1

NM_000474.4:p.G86_G92ins2

Associated Papers

A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies.

Lu G et al.

Frontiers in Genetics, 2022

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Wilkie AO et al.

American Journal of Medical Genetics. Part A, 2006

Functional analysis of natural mutations in two TWIST protein motifs.

Funato N et al.

Human Mutation, 2005

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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."