Varaico: Literature-Extracted Genetic Variants

Gene:AVIL
Variant:p.R199*
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AVIL

NM_006576.4:p.R199*

Associated Papers

Virtual Gene Panels Have a Superior Diagnostic Yield for Inherited Rare Diseases Relative to Static Panels.

Sheikh Hassani M et al.

Clinical Chemistry, 2025

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-5.xlsx › S_Data_4
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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."