A novel essential splice site variant in SPTB in a large hereditary spherocytosis family

by Taina T. Nieminen, Sandya Liyanarachchi, Daniel F. Comiskey Jr., Yanqiang Wang, Wei Li, Isabella V. Hendrickson, Pamela Brock, Albert de laChapelle, Huiling He
Published 2021-05-01

Meningkatnya hidrogen peroksida pada varian T16189C mtDNA semen manusia

by Sudjarwo Sudjarwo
Published 2012-02-01

Hypoparathyroidism Associated with the DNA Variants in Non-Coding Sequence Region of Calcium-Sensing Receptor

by Qiang Zhang, Li-Jie Zhang, Sha-Sha Yuan, Xiao-Jiang Quan, Bao-Yu Zhang, Dong Zhao
Published 2021-12-01

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

by Céline Bris, Céline Bris, David Goudenege, David Goudenege, Valérie Desquiret-Dumas, Valérie Desquiret-Dumas, Majida Charif, Estelle Colin, Estelle Colin, Dominique Bonneau, Dominique Bonneau, Patrizia Amati-Bonneau, Patrizia Amati-Bonneau, Guy Lenaers, Pascal Reynier, Pascal Reynier, Vincent Procaccio, Vincent Procaccio
Published 2018-12-01

Identification of a Novel Variant in MT-CO3 Causing MELAS

by Manting Xu, Manting Xu, Manting Xu, Robert Kopajtich, Robert Kopajtich, Matthias Elstner, Zhaoxia Wang, Zhimei Liu, Junling Wang, Holger Prokisch, Holger Prokisch, Fang Fang
Published 2021-05-01

Generation of Whole-Genome Sequencing Data for Comparing Primary and Castration-Resistant Prostate Cancer

by Jong-Lyul Park, Seon-Kyu Kim, Jeong-Hwan Kim, Seok Joong Yun, Wun-Jae Kim, Won Tae Kim, Pildu Jeong, Ho Won Kang, Seon-Young Kim
Published 2018-09-01

Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays

by Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, Alberto Acedo, Alberto Acedo, Eladio A. Velasco
Published 2018-05-01

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15

by Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, María José Caloca, Susana Gómez-Barrero, Eladio A. Velasco
Published 2019-05-01

Mitochondrial DNA Variants in Patients with Liver Injury Due to Anti-Tuberculosis Drugs

by Li-Na Lee, Chun-Ta Huang, Chia-Lin Hsu, Hsiu-Ching Chang, I-Shiow Jan, Jia-Luen Liu, Jin-Chuan Sheu, Jann-Tay Wang, Wei-Lun Liu, Huei-Shu Wu, Ching-Nien Chang, Jann-Yuan Wang
Published 2019-08-01

Guideline-Adherent Clinical Validation of a Comprehensive 170-Gene DNA/RNA Panel for Determination of Small Variants, Copy Number Variations, Splice Variants, and Fusions on a Next...

by Theresa A. Boyle, Ashis K. Mondal, Daryoush Saeed-Vafa, Sudha Ananth, Pankaj Ahluwalia, Ravi Kothapalli, Alka Chaubey, Evans Roberts, Dahui Qin, Anthony M. Magliocco, Amyn M. Rojiani, Ravindra Kolhe
Published 2021-05-01

Genetic Aspects of Susceptibility to Mercury Toxicity: An Overview

by Virginia Andreoli, Francesca Sprovieri
Published 2017-01-01

Exploring DNA Variant Segregation Types Enables Mapping Loci for Recessive Phenotypic Suppression of Columnar Growth in Apple

by Laura Dougherty, Tuanhui Bai, Tuanhui Bai, Susan Brown, Kenong Xu
Published 2020-06-01

Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants

by Satishkumar Ranganathan Ganakammal, Emil Alexov
Published 2019-11-01