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LARA
SANOGUERA MIRALLES
Investigadora no período 2019-2023
Publicacións (10) Publicacións de LARA SANOGUERA MIRALLES
2024
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Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants
Journal of Pathology, Vol. 262, Núm. 4, pp. 395-409
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Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338
2022
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Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer
Cancers, Vol. 14, Núm. 3
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Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C
Cancers, Vol. 14, Núm. 12
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Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants
Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101
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Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
Cancers, Vol. 14, Núm. 18
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Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants
Journal of Pathology, Vol. 256, Núm. 3, pp. 321-334
2021
2020
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Comprehensive functional characterization and clinical interpretation of 20 splice-site variants of the rad51c gene
Cancers, Vol. 12, Núm. 12, pp. 1-21
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UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays
Frontiers in Genetics, Vol. 11