Varaico: Literature-Extracted Genetic Variants

Gene:ADCY5
Variant:p.D588N
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ADCY5

NM_183357.3:p.D588N

Associated Papers

Structure of adenylyl cyclase 5 in complex with Gβγ offers insights into ADCY5-related dyskinesia.

Yen YC et al.

Nature Structural & Molecular Biology, 2024

Scoping Review on ADCY5-Related Movement Disorders.

Menon PJ et al.

Movement Disorders Clinical Practice, 2023

Isoform Specific Regulation of Adenylyl Cyclase 5 by Gβγ.

Yen YC et al.

Biorxiv : the Preprint Server for Biology, 2023

A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities.

Kaiyrzhanov R et al.

Movement Disorders Clinical Practice, 2021

34631954 (PubMed )
Supplement: MDC3-8-1140-s004.xlsx › Sheet1

Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.

Okamoto N et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.

Ferrini A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.

Bohlega SA et al.

Parkinsonism & Related Disorders, 2019

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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."