Publications:

Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs143455680

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report.

Frontiers In Pediatrics

Calvache, Carlos A CA; Vásquez, Estefanía C EC; Romero, Vanessa I VI; Hosomichi, Kazuyoshi K; Pozo, Juan C JC

Publication Date: 2022

Variant appearance in text: rs143455680

PubMed Link: 36467484

Variant Present in the following documents:

• Datasheet1.pdf

View BVdb publication page

Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.

Jama Network Open

Patel, Devanshi D; Mez, Jesse J; Vardarajan, Badri N BN; Staley, Lyndsay L; Chung, Jaeyoon J; Zhang, Xiaoling X; Farrell, John J JJ; Rynkiewicz, Michael J MJ; Cannon-Albright, Lisa A LA; Teerlink, Craig C CC; Stevens, Jeffery J; Corcoran, Christopher C; Gonzalez Murcia, Josue D JD; Lopez, Oscar L OL; Mayeux, Richard R; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Schellenberg, Gerard G; Kauwe, John S K JSK; Lunetta, Kathryn L KL; Farrer, Lindsay A LA; ,

Publication Date: 2019-03-01

Variant appearance in text: rs143455680

PubMed Link: 30924900

Variant Present in the following documents:

• jamanetwopen-2-e191350-s001.pdf

View BVdb publication page

Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: L3MBTL2: R34P

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page