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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.
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.
Eur J Hum Genet
; 30(9): 1051-1059, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35676339
4.
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
5.
Uncoupling protein-2 controls proliferation by promoting fatty acid oxidation and limiting glycolysis-derived pyruvate utilization.
FASEB J
; 22(1): 9-18, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-17855623
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