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BioWorld Science, Biomarkers
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Heterozygous mutations in TMEM163 cause hypomyelinating leukodystrophy

June 20, 2022

PIK3C2B variants impact mTOR pathway and lead to lipid signaling-driven focal epilepsy

June 20, 2022

TULP3 mutations cause degeneration of major organs

June 17, 2022

Pathogenic variants in PRRX1 gene associated with craniosynostosis

June 17, 2022

Nordic Bioscience and Roche strengthen biomarker collaboration

June 16, 2022

Genetic variants found in SLC35B2 gene tied to chondrodysplasia with hypomyelinating leukodystrophy

June 16, 2022

Variants in the PABP-domain of PABPC1 associated with developmental delay

June 16, 2022

rs41423247 SNP in NR3C1 gene predicts pneumonia complications in COVID-19

June 16, 2022

TAMM41 gene variation associated with neonatal mitochondrial disease

June 15, 2022

Variants in the FOSL2 gene cause a new neurodevelopmental disorder

June 15, 2022

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