Publications:

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: PALB2: 247C>A; His83Asn

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 2

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Assessment of functional effects of unclassified genetic variants.

Human Mutation

Couch, Fergus J FJ; Rasmussen, Lene Juel LJ; Hofstra, Robert R; Monteiro, Alvaro N A AN; Greenblatt, Marc S MS; de Wind, Niels N; ,

Publication Date: 2008-11

Variant appearance in text: PALB2: 247C>A; H83N

PubMed Link: 18951449

Variant Present in the following documents:

• Main text

View BVdb publication page