Associated Papers
Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature.
Zhang Z et al.
Diagnostics (basel, Switzerland), 2025
41464097 (PubMed )
Supplement: diagnostics-15-03097-s001.zip › Table_S2.xls › Genetic_Analysis_Variant_List
The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia.
Ivanoshchuk D et al.
Journal of Personalized Medicine, 2023
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Tang CSM et al.
Jci Insight, 2022
34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable7._Rec_CADD20
Identification of a novel mutation site in maturity‑onset diabetes of the young in a Chinese family by whole‑exome sequencing.
Yu H et al.
Molecular Medicine Reports, 2019
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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Japanese single nucleotide polymorphism database for 267 possible drug-related genes.
Iida A et al.
Cancer Science, 2006
[SNP collection, pharmacogenomics, and the future of drug therapy].
Iida A et al.
Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002
Congenital hyperinsulinism: molecular basis of a heterogeneous disease.
Meissner T et al.
Human Mutation, 1999
Identification and functional analysis of sulfonylurea receptor 1 variants in Japanese patients with NIDDM.
Ohta Y et al.
Diabetes, 1998
Intraductal papillary mucinous neoplasm in a neonate with congenital hyperinsulinism and a de novo germline SKIL gene mutation.
Jiao Y et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 0
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