Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.Q164L
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AGXT

NM_000030.3:p.Q164L

Associated Papers

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Seaby EG et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Middle_priority

Apolipoprotein E promoter polymorphisms (-491A/T and -427T/C) and Alzheimer's disease: no evidence of association in the Irish population.

Lynch CA et al.

Irish Journal of Medical Science, 2008

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