TG c.3349_3351delinsTTT ;(p.L1117F)

Variant ID: 8-133912500-CTG-TTT

NM_003235.4(TG):c.3349_3351delinsTTT;(p.L1117F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: TG: L1117F
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Separate roles of structured and unstructured regions of Y-family DNA polymerases.

Advances In Protein Chemistry And Structural Biology
Ohmori, Haruo H; Hanafusa, Tomo T; Ohashi, Eiji E; Vaziri, Cyrus C
Publication Date: 2009

Variant appearance in text: TG: L1117F
PubMed Link: 20663485
Variant Present in the following documents:
  • Main text
View BVdb publication page