Associated Papers
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Zhao J et al.
Scientific Reports, 2022
36564540 (PubMed )
Supplement: 41598_2022_26850_MOESM3_ESM.xlsx › RawData
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
Rim JH et al.
Scientific Reports, 2019
30872718 (PubMed )
Supplement: 41598_2019_41068_MOESM1_ESM.pdf
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
Barttin Regulates the Subcellular Localization and Posttranslational Modification of Human Cl-/H+ Antiporter ClC-5.
Wojciechowski D et al.
Frontiers in Physiology, 2018
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Miller EM et al.
Oncotarget, 2017
29254223 (PubMed )
Supplement: oncotarget-08-102033-s003.xlsx › macrogen_wes.n65_t65.varscan.sn
Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV.
Wang HH et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.
Nasuno T et al.
Cancer Science, 2014
24219164 (PubMed )
Supplement: cas0105-0202-SD2.xlsx › TE1
CLCNKB-T481S and essential hypertension in a Ghanaian population.
Sile S et al.
Journal of Hypertension, 2009
Functional BSND variants in essential hypertension.
Sile S et al.
American Journal of Hypertension, 2007
Molecular physiology of renal ClC chloride channels/transporters.
Sile S et al.
Current Opinion in Nephrology and Hypertension, 2006
Select a paper to view details