PAPPA c.4605+4763A>G

Variant ID: 9-119134796-A-G

NM_002581.3(PAPPA):c.4605+4763A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs7869550
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits.

Nature Genetics
Yang, Jian J; Ferreira, Teresa T; Morris, Andrew P AP; Medland, Sarah E SE; , ; , ; Madden, Pamela A F PA; Heath, Andrew C AC; Martin, Nicholas G NG; Montgomery, Grant W GW; Weedon, Michael N MN; Loos, Ruth J RJ; Frayling, Timothy M TM; McCarthy, Mark I MI; Hirschhorn, Joel N JN; Goddard, Michael E ME; Visscher, Peter M PM
Publication Date: 2012-03-18

Variant appearance in text: rs7869550
PubMed Link: 22426310
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of ten loci associated with height highlights new biological pathways in human growth.

Nature Genetics
Lettre, Guillaume G; Jackson, Anne U AU; Gieger, Christian C; Schumacher, Fredrick R FR; Berndt, Sonja I SI; Sanna, Serena S; Eyheramendy, Susana S; Voight, Benjamin F BF; Butler, Johannah L JL; Guiducci, Candace C; Illig, Thomas T; Hackett, Rachel R; Heid, Iris M IM; Jacobs, Kevin B KB; Lyssenko, Valeriya V; Uda, Manuela M; , ; , ; , ; , ; , ; , ; Boehnke, Michael M; Chanock, Stephen J SJ; Groop, Leif C LC; Hu, Frank B FB; Isomaa, Bo B; Kraft, Peter P; Peltonen, Leena L; Salomaa, Veikko V; Schlessinger, David D; Hunter, David J DJ; Hayes, Richard B RB; Abecasis, Gonçalo R GR; Wichmann, H-Erich HE; Mohlke, Karen L KL; Hirschhorn, Joel N JN
Publication Date: 2008-05

Variant appearance in text: rs7869550
PubMed Link: 18391950
Variant Present in the following documents:
  • Main text
View BVdb publication page