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Publications by Kepa B. Uribe

Mutation Type Classification and Pathogenicity Assignment of Sixteen Missense Variants Located in the EGF-precursor Homology Domain of the LDLR

Scientific Reports

Multidisciplinary

English

Calpain-Mediated Processing of Adenylate Cyclase Toxin Generates a Cytosolic Soluble Catalytically Active N-Terminal Domain

Multidisciplinary

English

Related publications

Predicting Pathogenicity of Missense Variants With Weakly Supervised Regression

English

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

American Journal of Human Genetics

English

[PROVISIONAL] Determining the Pathogenicity of CFTR Missense Variants: Multiple Comparison of in Silico Predictors and Variant Annotation Databases

Genetics and Molecular Biology

Molecular Biology

English

Single Missense Mutation in the Tyrosine Kinase Catalytic Domain of the RET Protooncogene Is Associated With Multiple Endocrine Neoplasia Type 2B.

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Author Correction: Characterization of a Recurrent Missense Mutation in the Forkhead DNA-binding Domain of FOXP1

Scientific Reports

Multidisciplinary

English

Identification of a Novel Missense Mutation in NIPAL4 Gene: First 3D Model Construction Predicted Its Pathogenicity

Molecular genetics & genomic medicine

Molecular Biology

English

A High-Throughput Functional Complementation Assay for Classification of BRCA1 Missense Variants

Cancer Discovery

English

Novel Amyloid Precursor Protein Gene Missense Mutation (D678N) in Probable Familial Alzheimer's Disease

Journal of Neurology, Neurosurgery and Psychiatry

English

Affected Siblings With Alzheimer's Disease Had Missense Mutation of Codon 717 in Amyloid Precursor Protein Gene.

Japanese Journal of Geriatrics

English