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Updated: Jul 15, 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

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic

Efraim H Rosenberg1, Cristina Martínez Muñoz, Ofir T Betsalel

  • 1Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands.

Human Mutation
|April 28, 2007
PubMed

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