SMN1 c.298_300delinsAAG ;(p.A100K)

Variant ID: 5-70238209-GCC-AAG

NM_000344.3(SMN1):c.298_300delinsAAG;(p.A100K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Proteomics reveals NNMT as a master metabolic regulator of cancer-associated fibroblasts.

Nature
Eckert, Mark A MA; Coscia, Fabian F; Chryplewicz, Agnieszka A; Chang, Jae Won JW; Hernandez, Kyle M KM; Pan, Shawn S; Tienda, Samantha M SM; Nahotko, Dominik A DA; Li, Gang G; Blaženović, Ivana I; Lastra, Ricardo R RR; Curtis, Marion M; Yamada, S Diane SD; Perets, Ruth R; McGregor, Stephanie M SM; Andrade, Jorge J; Fiehn, Oliver O; Moellering, Raymond E RE; Mann, Matthias M; Lengyel, Ernst E
Publication Date: 2019-05

Variant appearance in text: SMA: A100K
PubMed Link: 31043742
Variant Present in the following documents:
  • Main text
  • nihms-1525649.pdf
View BVdb publication page