Varaico: Literature-Extracted Genetic Variants

Gene:SNRPB
Variant:p.K52Splc
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SNRPB

NM_003091.4:p.K52Splc

Associated Papers

Multiplexed assays of human disease-relevant mutations reveal UTR dinucleotide composition as a major determinant of RNA stability.

Su JY et al.

Elife, 2025

39964837 (PubMed )
Supplement: elife-97682-supp1.xlsx › Sup_T2_metaTable

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

Slavotinek AM et al.

Hgg Advances, 2024

38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.

Felker SA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.

Felker SA et al.

Biorxiv : the Preprint Server for Biology, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."