SLC18B1 c.1287G>T ;(p.E429D)

Variant ID: 6-133092046-C-A

NM_052831.2(SLC18B1):c.1287G>T;(p.E429D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.

Molecular Genetics & Genomic Medicine
Ishorst, Nina N; Henschel, Leonie L; Thieme, Frederic F; Drichel, Dmitriy D; Sivalingam, Sugirthan S; Mehrem, Sarah L SL; Fechtner, Ariane C AC; Fazaal, Julia J; Welzenbach, Julia J; Heimbach, André A; Maj, Carlo C; Borisov, Oleg O; Hausen, Jonas J; Raff, Ruth R; Hoischen, Alexander A; Dixon, Michael M; Rada-Iglesias, Alvaro A; Bartusel, Michaela M; Rojas-Martinez, Augusto A; Aldhorae, Khalid K; Braumann, Bert B; Kruse, Teresa T; Kirschneck, Christian C; Spanier, Gerrit G; Reutter, Heiko H; Nowak, Stefanie S; Gölz, Lina L; Knapp, Michael M; Buness, Andreas A; Krawitz, Peter P; Nöthen, Markus M MM; Nothnagel, Michael M; Becker, Tim T; Ludwig, Kerstin U KU; Mangold, Elisabeth E
Publication Date: 2022-12-05

Variant appearance in text: rs1128998
PubMed Link: 36468602
Variant Present in the following documents:
  • MGG3-11-e2109-s001.pdf
View BVdb publication page



Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Cell Reports
Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V
Publication Date: 2015-10-13

Variant appearance in text: rs1128998
PubMed Link: 26440892
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page