Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: DSP: 1990C>T; Gln664Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genetic bases of arrhythmogenic right ventricular Cardiomyopathy.

Heart International

Rampazzo, Alessandra A

Publication Date: 2006

Variant appearance in text: DSP: Q664X

PubMed Link: 21977247

Variant Present in the following documents:

• Main text
• hi-2006-1-17.pdf

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Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.

The Journal Of Investigative Dermatology

Hobbs, Ryan P RP; Han, Sandra Y SY; van der Zwaag, Paul A PA; Bolling, Marieke C MC; Jongbloed, Jan D H JD; Jonkman, Marcel F MF; Getsios, Spiro S; Paller, Amy S AS; Green, Kathleen J KJ

Publication Date: 2010-11

Variant appearance in text: DSP: Q664X

PubMed Link: 20613772

Variant Present in the following documents:

• Main text

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Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.

The Journal Of Investigative Dermatology

Mahoney, My G MG; Sadowski, Sara S; Brennan, Donna D; Pikander, Pekka P; Saukko, Pekka P; Wahl, James J; Aho, Heikki H; Heikinheimo, Kristiina K; Bruckner-Tuderman, Leena L; Fertala, Andrzej A; Peltonen, Juha J; Uitto, Jouni J; Peltonen, Sirkku S

Publication Date: 2010-04

Variant appearance in text: DPI: Q664X

PubMed Link: 19924139

Variant Present in the following documents:

• Main text

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