Publications:

A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: PKD1: V1274M

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

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Autosomal Dominant Polycystic Kidney Disease: Presence of Hypomorphic Alleles in PKD1 Gene.

Indian Journal Of Nephrology

Pandita, S S; Khullar, D D; Saxena, R R; Verma, I C IC

Publication Date: 2018

Variant appearance in text: PKD1: Val1274Met

PubMed Link: 30647506

Variant Present in the following documents:

• Main text

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Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Journal Of The American Society Of Nephrology : Jasn

Cornec-Le Gall, Emilie E; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2018-01

Variant appearance in text: PKD1: Val1274Met

PubMed Link: 29038287

Variant Present in the following documents:

• Main text

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Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

Journal Of The American Society Of Nephrology : Jasn

Bergmann, Carsten C; von Bothmer, Jennifer J; Ortiz Brüchle, Nadina N; Venghaus, Andreas A; Frank, Valeska V; Fehrenbach, Henry H; Hampel, Tobias T; Pape, Lars L; Buske, Annegret A; Jonsson, Jon J; Sarioglu, Nanette N; Santos, Antónia A; Ferreira, Jose Carlos JC; Becker, Jan U JU; Cremer, Reinhold R; Hoefele, Julia J; Benz, Marcus R MR; Weber, Lutz T LT; Buettner, Reinhard R; Zerres, Klaus K

Publication Date: 2011-11

Variant appearance in text: PKD1: 3820G>A; V1274M

PubMed Link: 22034641

Variant Present in the following documents:

• Main text

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