Associated Papers
Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
Van Bergen NJ et al.
The Journal of Experimental Medicine, 2020
32639540 (PubMed )
Supplement: JEM_20192040_TableS3.xlsx › Sheet2
Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.
Li Y et al.
Molecular Medicine Reports, 2020
32705272 (PubMed )
Supplement: Supplementary_Data2.xlsx › original
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Bhattacharya S et al.
Genome Research, 2018
29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic
Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.
Cornelius A et al.
Frontiers in Pharmacology, 2017
28993730 (PubMed )
Supplement: Table3.xlsx › Germline
Bioinformatics analysis of thousands of TCGA tumors to determine the involvement of epigenetic regulators in human cancer.
Gnad F et al.
Bmc Genomics, 2015
26110843 (PubMed )
Supplement: 1471-2164-16-S8-S5-S7.xls › RecurrentMutations
Biochemical analysis of six genetic variants of error-prone human DNA polymerase ι involved in translesion DNA synthesis.
Kim J et al.
Chemical Research in Toxicology, 2014
Predisposition for TMPRSS2-ERG fusion in prostate cancer by variants in DNA repair genes.
Luedeke M et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2009
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