Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.D278N
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EGLN1

NM_022051.3:p.D278N

Associated Papers

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2

Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.

Bao M et al.

Journal of Medical Genetics, 2020

32561571 (PubMed )
Supplement: jmedgenet-2019-106145supp001.pdf
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