Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.R264G
Back to variants list

DYNC1H1

NM_001376.5:p.R264G

Associated Papers

Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations.

Li JT et al.

Frontiers in Neurology, 2022

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

Beecroft SJ et al.

Neuromuscular Disorders : Nmd, 2017

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Scoto M et al.

Neurology, 2015

A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.

Derksen A et al.

Child Neurology Open, 0

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."