Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Circulating tumor DNA as a marker of treatment response in BRAF V600E mutated non-melanoma solid tumors.
Ahlborn LB et al.
Oncotarget, 2018
30220966 (PubMed )
Supplement: oncotarget-09-32570-s003.xlsx › Sheet1
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › musc_biogrid_LGMD_MFM
Uniparental disomy causes deficiencies of vitamin K-dependent proteins.
Dasi MA et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle.
Costford SR et al.
Plos One, 2007
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