Publications:

A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: NF1: F2382L

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

Journal Of Medical Genetics

Burkitt Wright, Emma Mm EM; Sach, Emma E; Sharif, Saba S; Quarrell, Oliver O; Carroll, Thomas T; Whitehouse, Richard W RW; Upadhyaya, Meena M; Huson, Susan M SM; Evans, D Gareth R DG

Publication Date: 2013-09

Variant appearance in text: NF1: 7146C>A; Phe2382Leu

PubMed Link: 23812910

Variant Present in the following documents:

• Main text
• jmedgenet-2013-101648.pdf

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