Varaico: Literature-Extracted Genetic Variants

Gene:ADCY5
Variant:p.M696_G697Splc
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ADCY5

NM_183357.3:p.M696_G697Splc

Associated Papers

ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.

Innocenti A et al.

Movement Disorders Clinical Practice, 2025

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table2.xlsx › Supplementary_table_2._

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

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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."