Varaico: Literature-Extracted Genetic Variants

Gene:MAPRE2
Variant:p.R143C
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MAPRE2

NM_014268.4:p.R143C

Associated Papers

Loss of EB2 delays mitotic progression in murine and human neural progenitors.

Phillips AW et al.

Development (cambridge, England), 2026

A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2.

Feng J et al.

Molecular Genetics & Genomic Medicine, 2020

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Dentici ML et al.

Clinical Genetics, 2018

Zebrafish models of orofacial clefts.

Duncan KM et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2017

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Isrie M 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."