Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.E427_N428insA
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MCPH1

NM_024596.5:p.E427_N428insA

Associated Papers

The DNA damage response molecule MCPH1 in brain development and beyond.

Liu X et al.

Acta Biochimica Et Biophysica Sinica, 2016

Emerging roles of MCPH1: expedition from primary microcephaly to cancer.

Venkatesh T et al.

European Journal of Cell Biology, 2014

Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma.

Venkatesh T et al.

Plos One, 2013

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.

Ghani-Kakhki M et al.

Molecular Syndromology, 2012

Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly.

Scala I et al.

American Journal of Medical Genetics. Part A, 2010

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.

Trimborn M 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."