(Q34682335)

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Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism

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Europe PubMed Central

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3 August 2017

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism (English)

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Europe PubMed Central

PubMed publication ID

3 August 2017

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Europe PubMed Central

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3 August 2017

Silvia De Rubeis

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Silvia De Rubeis

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Iuliana Ionita-Laza

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Iuliana Ionita-Laza

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Europe PubMed Central

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3 August 2017

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Marinela Capanu

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3 August 2017

Kenneth McCallum

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Europe PubMed Central

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3 August 2017

publication date

11 December 2014

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Europe PubMed Central

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3 August 2017

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Europe PubMed Central

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3 August 2017

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Europe PubMed Central

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3 August 2017

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Europe PubMed Central

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3 August 2017

e1004729

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Europe PubMed Central

PubMed publication ID

3 August 2017

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Creative Commons Attribution 4.0 International

11 December 2014

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Joint analysis of functional genomic data and genome-wide association studies of 18 human traits

1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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10.1371/JOURNAL.PGEN.1004729

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Europe PubMed Central

PubMed publication ID

3 August 2017

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Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

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Europe PubMed Central

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3 August 2017

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