Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.R786_E787Splc
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PKD2

NM_000297.4:p.R786_E787Splc

Associated Papers

A practical framework for predicting splicing single nucleotide variants in exome sequencing.

Utsuno Y et al.

Nar Genomics and Bioinformatics, 2025

41424762 (PubMed )
Supplement: lqaf180_supplemental_files.zip › Supplementary_Tables_final.xlsx › Table_S7

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf
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