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TTN c.77989C>T ;(p.P25997S)
Variant ID: 2-179432870-G-A
NM_001267550.1(
TTN
):c.77989C>T;(p.P25997S)
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:
Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.
Cancer Gene Therapy
Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J
Publication Date: 2023-01-19
Variant appearance in text: TTN: 77989C>T; Pro25997Ser
PubMed Link:
36653483
Variant Present in the following documents:
41417_2022_572_MOESM9_ESM.xlsx, sheet 11
41417_2022_572_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.
Intractable & Rare Diseases Research
Algahtani, Hussein H; Shirah, Bader B; Algahtani, Raghad R; Al-Qahtani, Mohammad H MH; Abdulkareem, Angham Abdulrahman AA; Naseer, Muhammad Imran MI
Publication Date: 2019-05
Variant appearance in text: TTN: 77989C>T
PubMed Link:
31218166
Variant Present in the following documents:
Main text
View BVdb publication page