Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.Q151R
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EBP

NM_006579.3:p.Q151R

Associated Papers

A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis.

Qiao F et al.

The Application of Clinical Genetics, 2025

Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.

Liu JL et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022

36549658 (PubMed )
Supplement: gfac338_supplemental_file.pdf
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