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1 . Academic Journal
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer‐rich regions and 38 spliceogenic variants.
저자
by
Sanoguera‐Miralles, Lara
;
Llinares‐Burguet, Inés
;
Bueno‐Martínez, Elena
;
Ramadane‐Morchadi, Lobna
;
Stuani, Cristiana
, et al.
소스
Journal of Pathology; Apr2024, Vol. 262 Issue 4, p395-409, 15p
Full Text (Wiley)
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7 . Academic Journal
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.
저자
by
Sanoguera-Miralles, Lara
;
Valenzuela-Palomo, Alberto
;
Bueno-Martínez, Elena
;
Esteban-Sánchez, Ada
;
Lorca, Víctor
, et al.
소스
Clinical Chemistry; Jan2024, Vol. 70 Issue 1, p319-338, 20p
Full Text (OUP)
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7 . Academic Journal
Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.
저자
by
Valenzuela-Palomo, Alberto
;
Sanoguera-Miralles, Lara
;
Bueno-Martínez, Elena
;
Esteban-Sánchez, Ada
;
Llinares-Burguet, Inés
, et al.
소스
Cancers
. Sep2022, Vol. 14 Issue 18, pN.PAG-N.PAG. 18p.
Web of Science
Scopus
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7 . Academic Journal
Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants.
저자
by
Bueno‐Martínez, Elena
;
Sanoguera‐Miralles, Lara
;
Valenzuela‐Palomo, Alberto
;
Esteban‐Sánchez, Ada
;
Lorca, Víctor
, et al.
소스
Journal of Pathology; Sep2022, Vol. 258 Issue 1, p83-101, 19p
Full Text (Wiley)
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7 . Academic Journal
Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.
저자
by
Sanoguera-Miralles, Lara
;
Bueno-Martínez, Elena
;
Valenzuela-Palomo, Alberto
;
Esteban-Sánchez, Ada
;
Llinares-Burguet, Inés
, et al.
소스
Cancers
. Jun2022, Vol. 14 Issue 12, p2960-N.PAG. 15p.
Web of Science
Scopus
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7 . Academic Journal
Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants.
저자
by
Valenzuela‐Palomo, Alberto
;
Bueno‐Martínez, Elena
;
Sanoguera‐Miralles, Lara
;
Lorca, Víctor
;
Fraile‐Bethencourt, Eugenia
, et al.
소스
Journal of Pathology; Mar2022, Vol. 256 Issue 3, p321-334, 14p
Full Text (Wiley)
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7 . Academic Journal
UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays.
저자
by
Gailite, Linda
;
Valenzuela-Palomo, Alberto
;
Sanoguera-Miralles, Lara
;
Rots, Dmitrijs
;
Kreile, Madara
, et al.
소스
Frontiers in Genetics; 3/6/2020, Vol. 11, p1-8, 8p
Web of Science
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7 . Academic Journal
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene
저자
by
Sanoguera-Miralles, Lara
;
Valenzuela-Palomo, Alberto
;
Bueno-Martinez, Elena
;
Llovet, Patricia
;
Diez-Gomez, Beatriz
, et al.
소스
CANCERS
; DEC 2020, 12 12, p3771 21p.
Scopus
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7 . Academic Journal
UGT1A1 Variants c.864+5G > T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays
저자
by
Gailite, Linda
;
Valenzuela-Palomo, Alberto
;
Sanoguera-Miralles, Lara
;
Rots, Dmitrijs
;
Kreile, Madara
, et al.
소스
FRONTIERS IN GENETICS
; MAR 6 2020, 11 p169 8p.
Scopus
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7 . Academic Journal
RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.
저자
by
Bueno-Martínez, Elena
;
Sanoguera-Miralles, Lara
;
Valenzuela-Palomo, Alberto
;
Lorca, Víctor
;
Gómez-Sanz, Alicia
, et al.
소스
Cancers
. Jun2021, Vol. 13 Issue 11, p2845. 1p.
Web of Science
Scopus
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