Eladio A. Velasco

Valladolid, CL 47003, Spain

Last Updated: 09/26/2026

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Found 25 publications

Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer.

Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer.

Journal: Cancers

Published: December 22, 2021

Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.

Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.

Journal: The Journal of pathology

Published: July 16, 2021

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.

Journal: Cancers

Published: April 16, 2021

Editorial: RNA Splicing and Backsplicing: Disease and Therapy.

Editorial: RNA Splicing and Backsplicing: Disease and Therapy.

Journal: Frontiers in genetics

Published: November 06, 2020

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.

Journal: Cancers

Published: October 19, 2020

UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays.

UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays.

Journal: Frontiers in genetics

Published: November 14, 2019

Identification of a truncated β1-chimaerin variant that inactivates nuclear Rac1.

Identification of a truncated β1-chimaerin variant that inactivates nuclear Rac1.

Journal: The Journal of biological chemistry

Published: April 01, 2019

Association Between Bat Vitamin D Receptor 3' Haplotypes and Vitamin D Levels at Baseline and a Lower Response After Increased Vitamin D Supplementation and Exposure to Sunlight.

Association Between Bat Vitamin D Receptor 3' Haplotypes and Vitamin D Levels at Baseline and a Lower Response After Increased Vitamin D Supplementation and Exposure to Sunlight.

Journal: International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition

Published: February 22, 2019

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.

Journal: Frontiers in genetics

Published: February 05, 2019

Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.

Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.

Journal: The Journal of pathology

Published: November 14, 2018

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.

Journal: Journal of medical genetics

Published: October 26, 2018

Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.

Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.

Journal: Frontiers in genetics

Published: March 16, 2018

Showing 1-12 of 25

Last Updated: 09/26/2026