Publications:

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: PAH: Ile97Leu

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Multi-omics analyses reveal metabolic alterations regulated by hepatitis B virus core protein in hepatocellular carcinoma cells.

Scientific Reports

Xie, Qi Q; Fan, Fengxu F; Wei, Wei W; Liu, Yang Y; Xu, Zhongwei Z; Zhai, Linhui L; Qi, Yingzi Y; Ye, Bingyu B; Zhang, Yao Y; Basu, Sumit S; Zhao, Zhihu Z; Wu, Junzhu J; Xu, Ping P

Publication Date: 2017-01-23

Variant appearance in text: PAH: I97L

PubMed Link: 28112229

Variant Present in the following documents:

• srep41089.pdf

View BVdb publication page