Varaico: Literature-Extracted Genetic Variants

Gene:MAPRE2
Variant:p.R173Q
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MAPRE2

NM_014268.4:p.R173Q

Associated Papers

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

Phillips AW et al.

Development (cambridge, England), 2026

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1

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

Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene.

Gowda VK et al.

Annals of Indian Academy of Neurology, 0

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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."