APOB c.6517C>T ;(p.Q2173*)

Variant ID: 2-21233223-G-A

NM_000384.2(APOB):c.6517C>T;(p.Q2173*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrative Exome and Transcriptome Analysis of Conjunctival Melanoma and Its Potential Application for Personalized Therapy.

Jama Ophthalmology
Demirci, Hakan H; Demirci, F Yesim FY; Ciftci, Suleyman S; Elner, Victor M VM; Wu, Yi-Mi YM; Ning, Yu Y; Chinnaiyan, Arul A; Robinson, Dan R DR
Publication Date: 2019-12-01

Variant appearance in text: APOB: Q2173X
PubMed Link: 31647501
Variant Present in the following documents:
  • Main text
View BVdb publication page



Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports
Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A
Publication Date: 2018-11-21

Variant appearance in text: APOB: 6517C>T; Gln2173*
PubMed Link: 30464253
Variant Present in the following documents:
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4
View BVdb publication page