Varaico: Literature-Extracted Genetic Variants

Gene:MAPRE2
Variant:p.Q152*
Back to variants list

MAPRE2

NM_014268.4:p.Q152*

Associated Papers

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

Phillips AW et al.

Development (cambridge, England), 2026

MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome.

Thues C et al.

Scientific Reports, 2021

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

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

Isrie M et al.

American Journal of Human Genetics, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."