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Publications by Steven Keiles
Comprehensive Functional Analysis of Chymotrypsin C (CTRC) Variants Reveals Distinct Loss-Of-Function Mechanisms Associated With Pancreatitis Risk
Gut
Gastroenterology
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Genetic Variants Associated With Breast-Cancer Risk: Comprehensive Research Synopsis, Meta-Analysis, and Epidemiological Evidence
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Correction: Mechanisms of CFTR Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Biallelic ERBB3 Loss-Of-Function Variants Are Associated With a Novel Multisystem Syndrome Without Congenital Contracture
Orphanet Journal of Rare Diseases
Medicine
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Pharmacology
SNP and Haplotype Analysis Reveals New HFE Variants Associated With Iron Overload Trait
Human Mutation
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Non-Coding and Loss-Of-Function Coding Variants in TET2 Are Associated With Multiple Neurodegenerative Diseases
The Mechanisms for Chymotrypsin
Proceedings of the National Academy of Sciences of the United States of America
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Genetic Variants in SCN5A Promoter Are Associated With Arrhythmia Phenotype Severity in Patients With Heterozygous Loss-Of-Function Mutation
Heart Rhythm
Cardiovascular Medicine
Physiology
Cardiology
Hand2 Loss-Of-Function in Hand1-Expressing Cells Reveals Distinct Roles in Epicardial and Coronary Vessel Development
Circulation Research
Cardiovascular Medicine
Physiology
Cardiology
Genetic Variants Associated With Cardiac Structure and Function
JAMA - Journal of the American Medical Association
Medicine