Associated Papers
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
Xu J et al.
European Journal of Neurology, 2024
39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.
Soukarieh O et al.
Npj Genomic Medicine, 2023
37848456 (PubMed )
Supplement: 41525_2023_378_MOESM3_ESM.xlsx › Carrier_of_ENG_c.-68GA
SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.
Drouet C et al.
Frontiers in Allergy, 2022
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Jungwirth G et al.
Acta Neuropathologica Communications, 2019
31470906 (PubMed )
Supplement: 40478_2019_793_MOESM1_ESM.xlsx › MPILEUP_SNP
Whole-Genome Sequencing Identifies the Egl Nine Homologue 3 (egln3/phd3) and Protein Phosphatase 1 Regulatory Inhibitor Subunit 2 (PPP1R2P1) Associated with High-Altitude Polycythemia in Tibetans at High Altitude.
Gesang L et al.
Disease Markers, 2019
31827636 (PubMed )
Supplement: 5946461.f1.xlsx › Supplementary_Table_S1
Genetic analysis of hereditary angioedema in a Brazilian family by targeted next generation sequencing.
Veronez CL et al.
Biological Chemistry, 2016
Structural characterization of single nucleotide variants at ligand binding sites and enzyme active sites of human proteins.
Yamada KD et al.
Biophysics and Physicobiology, 2016
Mining for single nucleotide variants (SNVs) at the kallikrein locus with predicted functional consequences.
Sukumar N et al.
Biological Chemistry, 2014
A common polymorphism in the tissue kallikrein gene is associated with increased urinary excretions of calcium and sodium in Japanese volunteers.
Fujita T et al.
Journal of Human Genetics, 2013
A consolidated catalogue and graphical annotation of dbSNP polymorphisms in the human tissue kallikrein (KLK) locus.
Goard CA et al.
Molecular Oncology, 2007
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
Population-based sample reveals gene-gender interactions in blood pressure in White Americans.
Rana BK et al.
Hypertension (dallas, Tex. : 1979), 2007
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