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1.
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations.
J Med Genet
; 60(5): 450-459, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36113988
2.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-31992191
3.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(15): 7913-7923, 2018 09 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29750258
4.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 48(3): 1600-1601, 2020 02 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-31863589
5.
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(21): 11656-11657, 2018 11 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-30321405
6.
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Cancer Res
; 80(17): 3593-3605, 2020 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32641407
7.
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
Oncotarget
; 9(25): 17334-17348, 2018 Apr 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29707112
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