Associated Papers
Phenotypic Diversity Caused by the DES Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect.
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Correction of Ito in human induced pluripotent stem Cell-derived cardiomyocyte carrying DPP6 mutation in early repolarization syndrome by CRISPR/Cas9 genome editing.
Wu Y et al.
Experimental Cell Research, 2024
Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer's disease in the European American population.
Kirola L et al.
Acta Neuropathologica, 2021
33591372 (PubMed )
Supplement: 401_2021_2271_MOESM1_ESM.xlsx › Supplementary_Table_1
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
33196013 (PubMed )
Supplement: hs9-4-e497-s005.xlsx › Sheet1
Treatment-associated TP53 DNA-binding domain missense mutations in the pathogenesis of secondary gliosarcoma.
Pain M et al.
Oncotarget, 2018
29416795 (PubMed )
Supplement: oncotarget-09-2603-s001.pdf
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf
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