Varaico: Literature-Extracted Genetic Variants

Gene:ADCY5
Variant:p.R727K
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ADCY5

NM_183357.3:p.R727K

Associated Papers

Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.

Quazza F et al.

Parkinsonism & Related Disorders, 2025

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

Yen YC et al.

Nature Structural & Molecular Biology, 2024

Isoform Specific Regulation of Adenylyl Cyclase 5 by Gβγ.

Yen YC et al.

Biorxiv : the Preprint Server for Biology, 2023

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

[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

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.

Zech M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

Douglas AG et al.

Neurogenetics, 2017

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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."