Varaico: Literature-Extracted Genetic Variants

Gene:ADCY5
Variant:p.M1029R
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ADCY5

NM_183357.3:p.M1029R

Associated Papers

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

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."