Associated Papers
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM2_ESM.xlsx › Sheet1
Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.
Zöllner J et al.
Scientific Reports, 2023
Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.
Aitkulova A et al.
Biomedical Reports, 2022
35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S6.xls › Sheet1
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
Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature.
Abuduxikuer K et al.
World Journal of Gastroenterology, 2018
Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.
Hayashi H et al.
Ebiomedicine, 2018
Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.
Tode N et al.
Cancer Science, 2017
28294470 (PubMed )
Supplement: CAS-108-1263-s001.pdf
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Qiu YL et al.
Hepatology (baltimore, Md.), 2017
28027573 (PubMed )
Supplement: HEP-65-1655-s001.pdf
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1.
Hasegawa Y et al.
Orphanet Journal of Rare Diseases, 2014
Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
van der Woerd WL et al.
Plos One, 2013
Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in the ATP8B1 Gene.
Miura R et al.
Case Reports in Gastroenterology, 0
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