PTEN c.336_337insT ;(p.S113*)

Variant ID: 10-89692852-A-AT

NM_000314.4(PTEN):c.336_337insT;(p.S113*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations.

Npj Genomic Medicine
Yehia, Lamis L; Ni, Ying Y; Sadler, Tammy T; Frazier, Thomas W TW; Eng, Charis C
Publication Date: 2022-03-03

Variant appearance in text: N/A
PubMed Link: 35241692
Variant Present in the following documents:
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: N/A
PubMed Link: 25326804
Variant Present in the following documents:
View BVdb publication page