Varaico: Literature-Extracted Genetic Variants

Gene:MEIS1
Variant:p.R272H
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MEIS1

NM_002398.3:p.R272H

Associated Papers

A patient-enriched MEIS1 coding variant causes a restless legs syndrome-like phenotype in mice.

Leu CL et al.

Sleep, 2024

Investigation of dopaminergic signalling in Meis homeobox 1 (Meis1) deficient mice as an animal model of restless legs syndrome.

Cathiard L et al.

Journal of Sleep Research, 2021

MEIS1 and Restless Legs Syndrome: A Comprehensive Review.

Sarayloo F et al.

Frontiers in Neurology, 2019

Genetics of restless legs syndrome.

Winkelmann J et al.

Sleep Medicine, 2017

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.

Schulte EC et al.

American Journal of Human Genetics, 2014

MAPT1 gene rs1052553 variant is unrelated with the risk for restless legs syndrome.

Roco A et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2013

Non-synonymous variants in pre-B cell leukemia homeobox (PBX) genes are associated with congenital heart defects.

Arrington CB et al.

European Journal of Medical Genetics, 2012

Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population.

Yang Q et al.

Sleep Medicine, 2011

MEIS1 p.R272H in familial restless legs syndrome.

Vilariño-Güell C et al.

Neurology, 2009

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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."