TCF4 c.369+20627C>A

Variant ID: 18-53050058-G-T

NM_001083962.1(TCF4):c.369+20627C>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy.

Eye (London, England)
Okumura, Naoki N; Puangsricharern, Vilavun V; Jindasak, Raina R; Koizumi, Noriko N; Komori, Yuya Y; Ryousuke, Hayashi H; Nakahara, Makiko M; Nakano, Masakazu M; Adachi, Hiroko H; Tashiro, Kei K; Yoshii, Kengo K; Chantaren, Patchima P; Ittiwut, Rungnapa R; Shotelersuk, Vorasuk V; Suphapeetiporn, Kanya K
Publication Date: 2020-05

Variant appearance in text: rs1348047
PubMed Link: 31554942
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy.

Cornea
Okumura, Naoki N; Hayashi, Ryousuke R; Nakano, Masakazu M; Tashiro, Kei K; Yoshii, Kengo K; Aleff, Ross R; Butz, Malinda M; Highsmith, Edward W EW; Wieben, Eric D ED; Fautsch, Michael P MP; Baratz, Keith H KH; Komori, Yuya Y; Ueda, Emi E; Nakahara, Makiko M; Weller, Julia J; Tourtas, Theofilos T; Schlötzer-Schrehardt, Ursula U; Kruse, Friedrich F; Koizumi, Noriko N
Publication Date: 2019-07

Variant appearance in text: rs1348047
PubMed Link: 30973406
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.

International Journal Of Molecular Medicine
Tang, Hui H; Zhang, Wen W; Yan, Xin-Min XM; Wang, Lin-Ping LP; Dong, Hong H; Shou, Tao T; Lei, Huo H; Guo, Qiang Q
Publication Date: 2016-06

Variant appearance in text: rs1348047
PubMed Link: 27121161
Variant Present in the following documents:
  • Main text
  • ijmm-37-06-1487.pdf
View BVdb publication page



Transethnic replication of association of CTG18.1 repeat expansion of TCF4 gene with Fuchs' corneal dystrophy in Chinese implies common causal variant.

Investigative Ophthalmology & Visual Science
Xing, Chao C; Gong, Xin X; Hussain, Imran I; Khor, Chiea-Chuen CC; Tan, Donald T H DT; Aung, Tin T; Mehta, Jodhbir S JS; Vithana, Eranga N EN; Mootha, V Vinod VV
Publication Date: 2014-10-08

Variant appearance in text: rs1348047
PubMed Link: 25298419
Variant Present in the following documents:
  • Main text
View BVdb publication page