SLBP c.281+781A>C

Variant ID: 4-1704542-T-G

NM_006527.2(SLBP):c.281+781A>C

This variant was identified in 6 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: rs2236995
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Prioritization of PLEC and GRINA as Osteoarthritis Risk Genes Through the Identification and Characterization of Novel Methylation Quantitative Trait Loci.

Arthritis & Rheumatology (Hoboken, N.J.)
Rice, Sarah J SJ; Tselepi, Maria M; Sorial, Antony K AK; Aubourg, Guillaume G; Shepherd, Colin C; Almarza, David D; Skelton, Andrew J AJ; Pangou, Ioanna I; Deehan, David D; Reynard, Louise N LN; Loughlin, John J
Publication Date: 2019-08

Variant appearance in text: rs2236995
PubMed Link: 30730609
Variant Present in the following documents:
  • Main text
  • ART-71-1285.pdf
View BVdb publication page



The Rotterdam Study: 2018 update on objectives, design and main results.

European Journal Of Epidemiology
Ikram, M Arfan MA; Brusselle, Guy G O GGO; Murad, Sarwa Darwish SD; van Duijn, Cornelia M CM; Franco, Oscar H OH; Goedegebure, André A; Klaver, Caroline C W CCW; Nijsten, Tamar E C TEC; Peeters, Robin P RP; Stricker, Bruno H BH; Tiemeier, Henning H; Uitterlinden, André G AG; Vernooij, Meike W MW; Hofman, Albert A
Publication Date: 2017-09

Variant appearance in text: rs2236995
PubMed Link: 29064009
Variant Present in the following documents:
  • Main text
  • 10654_2017_Article_321.pdf
View BVdb publication page



Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis.

Plos Genetics
Castaño-Betancourt, Martha C MC; Evans, Dan S DS; Ramos, Yolande F M YF; Boer, Cindy G CG; Metrustry, Sarah S; Liu, Youfang Y; den Hollander, Wouter W; van Rooij, Jeroen J; Kraus, Virginia B VB; Yau, Michelle S MS; Mitchell, Braxton D BD; Muir, Kenneth K; Hofman, Albert A; Doherty, Michael M; Doherty, Sally S; Zhang, Weiya W; Kraaij, Robert R; Rivadeneira, Fernando F; Barrett-Connor, Elizabeth E; Maciewicz, Rose A RA; Arden, Nigel N; Nelissen, Rob G H H RG; Kloppenburg, Margreet M; Jordan, Joanne M JM; Nevitt, Michael C MC; Slagboom, Eline P EP; Hart, Deborah J DJ; Lafeber, Floris F; Styrkarsdottir, Unnur U; Zeggini, Eleftheria E; Evangelou, Evangelos E; Spector, Tim D TD; Uitterlinden, Andre G AG; Lane, Nancy E NE; Meulenbelt, Ingrid I; Valdes, Ana M AM; van Meurs, Joyce B J JB
Publication Date: 2016-10

Variant appearance in text: rs2236995
PubMed Link: 27701424
Variant Present in the following documents:
  • Main text
  • pgen.1006260.pdf
View BVdb publication page



Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin.

Plos One
Perlado, Sara S; Bustamante-Aragonés, Ana A; Donas, Marta M; Lorda-Sánchez, Isabel I; Plaza, Javier J; Rodríguez de Alba, Marta M
Publication Date: 2016

Variant appearance in text: rs2236995
PubMed Link: 27078875
Variant Present in the following documents:
  • Main text
  • pone.0153258.pdf
View BVdb publication page



Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample.

American Journal Of Human Genetics
Suarez, Brian K BK; Duan, Jubao J; Sanders, Alan R AR; Hinrichs, Anthony L AL; Jin, Carol H CH; Hou, Cuiping C; Buccola, Nancy G NG; Hale, Nancy N; Weilbaecher, Ann N AN; Nertney, Deborah A DA; Olincy, Ann A; Green, Susan S; Schaffer, Arthur W AW; Smith, Christopher J CJ; Hannah, Dominique E DE; Rice, John P JP; Cox, Nancy J NJ; Martinez, Maria M; Mowry, Bryan J BJ; Amin, Farooq F; Silverman, Jeremy M JM; Black, Donald W DW; Byerley, William F WF; Crowe, Raymond R RR; Freedman, Robert R; Cloninger, C Robert CR; Levinson, Douglas F DF; Gejman, Pablo V PV
Publication Date: 2006-02

Variant appearance in text: rs2236995
PubMed Link: 16400611
Variant Present in the following documents:
  • Main text
View BVdb publication page