Publications:

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

Plos Genetics

Thompson, Ella R ER; Doyle, Maria A MA; Ryland, Georgina L GL; Rowley, Simone M SM; Choong, David Y H DY; Tothill, Richard W RW; Thorne, Heather H; , ; Barnes, Daniel R DR; Li, Jason J; Ellul, Jason J; Philip, Gayle K GK; Antill, Yoland C YC; James, Paul A PA; Trainer, Alison H AH; Mitchell, Gillian G; Campbell, Ian G IG

Publication Date: 2012-09

Variant appearance in text: PRNP: W89*

PubMed Link: 23028338

Variant Present in the following documents:

• pgen.1002894.s003.xlsx, sheet 1

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Co-existence of scrapie prion protein types 1 and 2 in sporadic Creutzfeldt-Jakob disease: its effect on the phenotype and prion-type characteristics.

Brain : A Journal Of Neurology

Cali, Ignazio I; Castellani, Rudolph R; Alshekhlee, Amer A; Cohen, Yvonne Y; Blevins, Janis J; Yuan, Jue J; Langeveld, Jan P M JP; Parchi, Piero P; Safar, Jiri G JG; Zou, Wen-Quan WQ; Gambetti, Pierluigi P

Publication Date: 2009-10

Variant appearance in text: CJD: W89*

PubMed Link: 19734292

Variant Present in the following documents:

• Main text

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