Publications:

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: PKD1: G3303G; rs2855354

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

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Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Plos One

Kinoshita, Moritoshi M; Higashihara, Eiji E; Kawano, Haruna H; Higashiyama, Ryo R; Koga, Daisuke D; Fukui, Takafumi T; Gondo, Nobuhisa N; Oka, Takehiko T; Kawahara, Kozo K; Rigo, Krisztina K; Hague, Tim T; Katsuragi, Kiyonori K; Sudo, Kimiyoshi K; Takeshi, Masahiko M; Horie, Shigeo S; Nutahara, Kikuo K

Publication Date: 2016

Variant appearance in text: PKD1: 9909C>A

PubMed Link: 27835667

Variant Present in the following documents:

• pone.0166288.s005.xls, sheet 1

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Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).

Bmc Medical Genetics

Thongnoppakhun, Wanna W; Limwongse, Chanin C; Vareesangthip, Kriengsak K; Sirinavin, Chintana C; Bunditworapoom, Duangkamon D; Rungroj, Nanyawan N; Yenchitsomanus, Pa-thai PT

Publication Date: 2004-02-03

Variant appearance in text: PKD1: G3303G

PubMed Link: 15018634

Variant Present in the following documents:

• Main text

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