Varaico: Literature-Extracted Genetic Variants

Gene:ADCY5
Variant:p.R438P
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ADCY5

NM_183357.3:p.R438P

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

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

Yen YC et al.

Nature Structural & Molecular Biology, 2024

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

[ADCY5-associated dyskinesia in young children: a case report of a family and an updated review].

Aguilera-Nieto L et al.

Revista De Neurologia, 2020

ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.

Carecchio M et al.

Parkinsonism & Related Disorders, 2017

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

Douglas AG et al.

Neurogenetics, 2017

ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

Friedman JR et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2016

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Chen DH et al.

Neurology, 2015

Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New?

Schneider SA et al.

Movement Disorders Clinical Practice, 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."