Varaico: Literature-Extracted Genetic Variants

Gene:ADGRA2
Variant:p.V320M
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ADGRA2

NM_032777.10:p.V320M

Associated Papers

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM17_ESM.xlsx › S17

Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.

Rostami MR et al.

Molecular Therapy. Methods & Clinical Development, 2023

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.

Lee H et al.

Human Molecular Genetics, 2014

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