Varaico: Literature-Extracted Genetic Variants

Gene:ADCY5
Variant:p.G599S
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ADCY5

NM_183357.3:p.G599S

Associated Papers

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.

Thomsen M et al.

Annals of Clinical and Translational Neurology, 2025

40533913 (PubMed )
Supplement: ACN3-12-1648-s002.xlsx › Table_2_-_Pathogenic_vars

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

Thomsen M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677454 (PubMed )
Supplement: media-1.xlsx › Table_2_-_Pathogenic_vars

Dose Dependence Effect in Biallelic WNT10A Variant-Associated Tooth Agenesis Phenotype.

Liu H et al.

Diagnostics (basel, Switzerland), 2022

36553094 (PubMed )
Supplement: diagnostics-12-03087-s001.zip › Table_S1_.pdf
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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."