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PTEN c.253+1dup
Variant ID: 10-89690845-A-AG
NM_000314.4(
PTEN
):c.253+1dup
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:
Whole genome sequencing of 45 Japanese patients with intellectual disability.
American Journal Of Medical Genetics. Part A
Abe-Hatano, Chihiro C; Iida, Aritoshi A; Kosugi, Shunichi S; Momozawa, Yukihide Y; Terao, Chikashi C; Ishikawa, Keiko K; Okubo, Mariko M; Hachiya, Yasuo Y; Nishida, Hiroya H; Nakamura, Kazuyuki K; Miyata, Rie R; Murakami, Chie C; Takahashi, Kan K; Hoshino, Kyoko K; Sakamoto, Haruko H; Ohta, Sayaka S; Kubota, Masaya M; Takeshita, Eri E; Ishiyama, Akihiko A; Nakagawa, Eiji E; Sasaki, Masayuki M; Kato, Mitsuhiro M; Matsumoto, Naomichi N; Kamatani, Yoichiro Y; Kubo, Michiaki M; Takahashi, Yoshiyuki Y; Natsume, Jun J; Inoue, Ken K; Goto, Yu-Ichi YI
Publication Date: 2021-05
Variant appearance in text: rs876660082
PubMed Link:
33624935
Variant Present in the following documents:
Main text
AJMG-185-1468.pdf
View BVdb publication page
Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.
Bmc Medical Genomics
Akahane, Toshiaki T; Kitazono, Ikumi I; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Sakamoto, Ippei I; Nohara, Sachio S; Yokoyama, Seiya S; Kobayashi, Hiroaki H; Hiraki, Tsubasa T; Suzuki, Shinsuke S; Ueno, Shinichi S; Tanimoto, Akihide A
Publication Date: 2020-07-11
Variant appearance in text: PTEN: 253+1dupG
PubMed Link:
32652986
Variant Present in the following documents:
12920_2020_753_MOESM1_ESM.xlsx, sheet 1
12920_2020_753_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page