Associated Papers
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
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
29575536 (PubMed )
Supplement: GCC-57-366-s004.xlsx › MSI
Evaluation of whole exome sequencing by targeted gene sequencing and Sanger sequencing.
Chang YS et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Genetic analysis of hereditary angioedema in a Brazilian family by targeted next generation sequencing.
Veronez CL et al.
Biological Chemistry, 2016
Mining for single nucleotide variants (SNVs) at the kallikrein locus with predicted functional consequences.
Sukumar N et al.
Biological Chemistry, 2014
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
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