ADAMTS13 c.1783_1784del ;(p.L595Gfs*19)

Variant ID: 9-136304564-CTT-C

NM_139027.4(ADAMTS13):c.1783_1784del;(p.L595Gfs*19)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: ADAMTS13: 1783_1784del; Leu595fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



An ADAMTS13 mutation that causes hereditary thrombotic thrombocytopenic purpura: a case report and literature review.

Bmc Medical Genomics
Li, Pengzhu P; Jiang, Jie J; Xi, Qiong Q; Yang, Zuocheng Z
Publication Date: 2021-10-26

Variant appearance in text: ADAMTS13: 1783_1784delTT; Leu595Glyfs
PubMed Link: 34702267
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_1099.pdf
View BVdb publication page



Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.

Bmc Genomics
Jang, Hyeon-Min HM; Erf, Gisela F GF; Rowland, Kaylee C KC; Kong, Byung-Whi BW
Publication Date: 2014-08-23

Variant appearance in text: ADAMTS13: 1783_1784delTT
PubMed Link: 25151476
Variant Present in the following documents:
  • Main text
  • 12864_2013_Article_6386.pdf
View BVdb publication page