Associated Papers
Rare protective variants and glaucoma-relevant cell stressors modulate Angiopoietin-like 7 expression.
Aboobakar IF et al.
Human Molecular Genetics, 2023
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.
Tanigawa Y et al.
Plos Genetics, 2020
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 › skeletal_muscle
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