Tina Pesaran to RNA Splice Sites
This is a "connection" page, showing publications Tina Pesaran has written about RNA Splice Sites.
Connection Strength
0.316
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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach. Hum Mutat. 2022 12; 43(12):1921-1944.
Score: 0.202
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Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions. PLoS One. 2020; 15(8):e0233673.
Score: 0.043
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Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report. J Med Genet. 2019 07; 56(7):453-460.
Score: 0.039
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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Hum Mol Genet. 2016 06 01; 25(11):2256-2268.
Score: 0.032