Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1G
Variant:p.F223del1
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CACNA1G

NM_018896.5:p.F223del1

Associated Papers

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM12_ESM.xlsx › Sheet1

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.

Shaheen R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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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."