Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-023-01174-w.pdf
Reference10 articles.
1. Jelsig AM, Qvist N, Brusgaard K, Nielsen CB, Hansen TP, Ousager LB. Hamartomatous polyposis syndromes: a review. Orphanet J Rare Dis. 2014;9:101.
2. Jass JR, Williams CB, Bussey HJ, Morson BC. Juvenile polyposis-a precancerous condition. Histopathology .1988;13:619–30.
3. Byrjalsen A, Hansen TVO, Stoltze UK, Mehrjouy MM, Barnkob NM, Hjalgrim LL, et al. Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes. PLoS Genet. 2020;16:e1009231.
4. Montalban G, Bonache S, Moles-Fernández A, Gadea N, Tenés A, Torres-Esquius S, et al. Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes. Hum Mutat. 2019;40:2296–317.
5. Mester JL, Ghosh R, Pesaran T, Huether R, Karam R, Hruska KS, et al. Gene-specific criteria for PTEN variant curation: recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018;39:1581–92.
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