A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

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Updated: Oct 31, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

F Hildebrandt1, E Otto, C Rensing

  • 1University Children's Hospital, Freiburg University, Germany. hildebra@sunt.uk1.uni-freiburg.de

Nature Genetics
|November 5, 1997
PubMed

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