LRP1B c.13378T>C ;(p.L4460=)

Variant ID: 2-140997048-A-G

NM_018557.2(LRP1B):c.13378T>C;(p.L4460=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


An adaptive method of defining negative mutation status for multi-sample comparison using next-generation sequencing.

Bmc Medical Genomics
Hutson, Nicholas N; Zhan, Fenglin F; Graham, James J; Murakami, Mitsuko M; Zhang, Han H; Ganaparti, Sujana S; Hu, Qiang Q; Yan, Li L; Ma, Changxing C; Liu, Song S; Xie, Jun J; Wei, Lei L
Publication Date: 2021-12-02

Variant appearance in text: LRP1B: L4460L
PubMed Link: 34856988
Variant Present in the following documents:
  • 12920_2021_880_MOESM1_ESM.xls, sheet 1
View BVdb publication page



An adaptive method of defining negative mutation status for multi-sample comparison using next-generation sequencing.

Bmc Medical Genomics
Hutson, Nicholas N; Zhan, Fenglin F; Graham, James J; Murakami, Mitsuko M; Zhang, Han H; Ganaparti, Sujana S; Hu, Qiang Q; Yan, Li L; Ma, Changxing C; Liu, Song S; Xie, Jun J; Wei, Lei L
Publication Date: 2021-12-02

Variant appearance in text: LRP1B: L4460L
PubMed Link: 34856988
Variant Present in the following documents:
  • 12920_2021_880_MOESM1_ESM.xls, sheet 1
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: LRP1B: 13378T>C; Leu4460Leu
PubMed Link: 30464253
Variant Present in the following documents:
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4
View BVdb publication page