Associated Papers
Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations.
Sanga S et al.
European Journal of Neurology, 2021
Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.
Xie S et al.
Cell Reports, 2020
32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT224_Mutations
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E et al.
Orphanet Journal of Rare Diseases, 2017
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A et al.
Journal of Veterinary Internal Medicine, 0
37594181 (PubMed )
Supplement: JVIM-37-1716-s005.xlsx › ST2B-ClinVar_COL6A1
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