Associated Papers
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
Sortilin enhances secretion of apolipoprotein(a) through effects on apolipoprotein B secretion and promotes uptake of lipoprotein(a).
Clark JR et al.
Journal of Lipid Research, 2022
35469919 (PubMed )
Supplement: mmc1.pdf
Mechanism underlying the regulation of sortilin expression and its trafficking function.
Ouyang S et al.
Journal of Cellular Physiology, 2020
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.
Gao J et al.
International Journal of Molecular Sciences, 2020
32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.
Liu S et al.
Chinese Medical Journal, 2019
31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5
Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.
Philtjens S et al.
Neurobiology of Aging, 2018
Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking.
Coutinho MF et al.
Clinical Genetics, 2015
Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia.
Tveten K et al.
Atherosclerosis, 2012
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