Publications:

Angiosarcoma heterogeneity and potential therapeutic vulnerability to immune checkpoint blockade: insights from genomic sequencing.

Genome Medicine

Boichard, Amélie A; Wagner, Michael J MJ; Kurzrock, Razelle R

Publication Date: 2020-07-09

Variant appearance in text: APOE: 109G>A; Glu37Lys

PubMed Link: 32646514

Variant Present in the following documents:

• 13073_2020_753_MOESM2_ESM.xlsx, sheet 1

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Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics

Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-05-30

Variant appearance in text: APOE: 109G>A; E37K

PubMed Link: 31146700

Variant Present in the following documents:

• 12881_2019_813_MOESM1_ESM.xls, sheet 1

View BVdb publication page

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.

Plos Genetics

Benitez, Bruno A BA; Karch, Celeste M CM; Cai, Yefei Y; Jin, Sheng Chih SC; Cooper, Breanna B; Carrell, David D; Bertelsen, Sarah S; Chibnik, Lori L; Schneider, Julie A JA; Bennett, David A DA; , ; , ; Fagan, Anne M AM; Holtzman, David D; Morris, John C JC; Goate, Alison M AM; Cruchaga, Carlos C

Publication Date: 2013

Variant appearance in text: APOE: E37K; rs142480126

PubMed Link: 23990795

Variant Present in the following documents:

• Main text
• pgen.1003685.pdf

View BVdb publication page