Associated Papers
[Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients].
Tang Y et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
Cellular and genetic drivers of RNA editing variation in the human brain.
Cuddleston WH et al.
Nature Communications, 2022
35637184 (PubMed )
Supplement: 41467_2022_30531_MOESM8_ESM.xlsx › Putative_novel_recoding_events
Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study†.
Tan MQ et al.
Biology of Reproduction, 2022
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families
Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.
Moon CM et al.
Inflammatory Bowel Diseases, 2018
29733354 (PubMed )
Supplement: izy122_suppl_supporting_data.pdf
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.
Visschedijk MC et al.
Plos One, 2016
27490946 (PubMed )
Supplement: pone.0159609.s002.xlsx › Results_Discovery_phase_I
Nonsynonymous single nucleotide polymorphisms of NHE3 differentially decrease NHE3 transporter activity.
Zhu XC et al.
American Journal of Physiology. Cell Physiology, 2015
Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.
Sun H et al.
Journal of Proteome Research, 2015
25698088 (PubMed )
Supplement: pr500944c_si_009.xlsx › SNV
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ et al.
Plos Genetics, 2015
25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs
Genetic susceptibility to febrile seizures: case-control association studies.
Kira R et al.
Brain & Development, 2010
Renal albumin excretion: twin studies identify influences of heredity, environment, and adrenergic pathway polymorphism.
Rao F et al.
Hypertension (dallas, Tex. : 1979), 2007
17353515 (PubMed )
Supplement: sup_zhy081679-s1.pdf
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