Associated Papers
p53 mitigates the effects of oncogenic HRAS in urothelial cells via the repression of MCOLN1.
Jung J et al.
Iscience, 2021
34222845 (PubMed )
Supplement: mmc6.xlsx › Supplementary_Table_5
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.
Chiorean A et al.
Scientific Reports, 2020
33139814 (PubMed )
Supplement: 41598_2020_75919_MOESM2_ESM.xlsx › LOF_and_nonsynonymous_mutations
Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations.
Sriretnakumar V et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2019
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Wassif CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
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