Publications:

Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.

Plos One

Murakami, Hiroaki H; Tamura, Norito N; Enomoto, Yumi Y; Shimasaki, Kentaro K; Kurosawa, Kenji K; Hanada, Kentaro K

Publication Date: 2020

Variant appearance in text: PC: 1111G>A; Gly371Arg

PubMed Link: 33347465

Variant Present in the following documents:

• Main text
• pone.0243980.pdf

View BVdb publication page

HLA class I loss in metachronous metastases prevents continuous T cell recognition of mutated neoantigens in a human melanoma model.

Oncotarget

Schrörs, Barbara B; Lübcke, Silke S; Lennerz, Volker V; Fatho, Martina M; Bicker, Anne A; Wölfel, Catherine C; Derigs, Patrick P; Hankeln, Thomas T; Schadendorf, Dirk D; Paschen, Annette A; Wölfel, Thomas T

Publication Date: 2017-04-25

Variant appearance in text: PC: G371R

PubMed Link: 28423700

Variant Present in the following documents:

• oncotarget-08-28312-s002.pdf

View BVdb publication page