Publications:

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: NF1: A246E

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.

Scientific Reports

Zhang, Jia J; Tong, Hanxing H; Fu, Xi'an X; Zhang, Yong Y; Liu, Jiangbo J; Cheng, Ruhong R; Liang, Jianying J; Peng, Jie J; Sun, Zhonghui Z; Liu, Hong H; Zhang, Furen F; Lu, Weiqi W; Li, Ming M; Yao, Zhirong Z

Publication Date: 2015-06-09

Variant appearance in text: NF1: 737C>A; Ala246Glu

PubMed Link: 26056819

Variant Present in the following documents:

• Main text
• srep11291-s1.pdf
• srep11291.pdf

View BVdb publication page