Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA5
Variant:p.E228Q
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SERPINA5

NM_000624.6:p.E228Q

Associated Papers

The SERPINA5 coding variant E228Q does not contribute to clinicopathologic characteristics in Alzheimer's disease: A cross-sectional study.

Matchett BJ et al.

Medicine, 2023

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.

Croft B et al.

Clinical Genetics, 2023

36349847 (PubMed )
Supplement: CGE-103-277-s003.xlsx › Sheet1

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Teerlink CC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022

34151536 (PubMed )
Supplement: ALZ-18-307-s002.xlsx › Biological_Context_Filter

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC8_ERR166330
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