Associated Papers
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
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants
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
Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.
Verduin M et al.
Neuro-oncology Advances, 0
38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
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