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GAA c.1385T>C ;(p.L462P)
Variant ID: 17-78083802-T-C
NM_000152.3(
GAA
):c.1385T>C;(p.L462P)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.
Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31
Variant appearance in text: GAA: 1385T>C; Leu462Pro
PubMed Link:
33115981
Variant Present in the following documents:
molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page
[Research advances in the diagnosis and treatment of Pompe disease].
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Zhang, Xin-Tong XT; Ren, Wei-Dong WD
Publication Date: 2018-07
Variant appearance in text: GAA: Leu462Pro
PubMed Link:
30022764
Variant Present in the following documents:
Main text
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: GAA: L462P
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s3.xls, sheet 1
View BVdb publication page