Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.R1623W
Back to variants list

DYNC1H1

NM_001376.5:p.R1623W

Associated Papers

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.

Pérez-Vidarte F et al.

Annals of Clinical and Translational Neurology, 2025

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Bernkopf M et al.

Nature Communications, 2023

36792598 (PubMed )
Supplement: 41467_2023_36606_MOESM4_ESM.xlsx › Supplementary_Data_1

The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.

Yubero D et al.

International Journal of Molecular Sciences, 2021

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."