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PTS c.163+698del
Variant ID: 11-112100091-TA-T
NM_000317.2(
PTS
):c.163+698del
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Frontiers In Genetics
Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S
Publication Date: 2022
Variant appearance in text: PTS: 163+696del
PubMed Link:
35754842
Variant Present in the following documents:
DataSheet1.xlsx, sheet 1
View BVdb publication page
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Frontiers In Genetics
Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S
Publication Date: 2021
Variant appearance in text: PTS: 163+696del
PubMed Link:
35140743
Variant Present in the following documents:
Main text
fgene-12-806946.pdf
View BVdb publication page