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GENETICS. The Human Variome Project

GENETICS. The Human Variome Project

http://www.wikidata.org/entity/Q33608598

about

DISC1 splice variants are upregulated in schizophrenia and associated with risk polymorphisms Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models Improving the prediction of disease-related variants using protein three-dimensional structure Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.Common genetic variation in Neuregulin 3 (NRG3) influences risk for schizophrenia and impacts NRG3 expression in human brain.VariBench: a benchmark database for variations.WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation.Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence.Evolutionary molecular medicine.Role of the Neuregulin Signaling Pathway in Nicotine Dependence and Co-morbid Disorders.Annotating DNA variants is the next major goal for human genetics.Deep phenotyping for precision medicine.Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.The Human Variome Project.Human genotype-phenotype databases: aims, challenges and opportunities.Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation.A new disease-specific machine learning approach for the prediction of cancer-causing missense variants.KMD: Korean Mutation Database for genes related to diseases.Revisiting DARPP-32 in postmortem human brain: changes in schizophrenia and bipolar disorder and genetic associations with t-DARPP-32 expression.Santorini mutation detection meeting 2011: rapid advance in sequencing technology poses challenges for interpretation of genetic variations.PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update.Call for participation in the neurogenetics consortium within the Human Variome Project.MECP2 variation in Rett syndrome - an overview of current coverage of genetic and phenotype data within existing databases Planning the human variome project: the Spain report.

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GENETICS. The Human Variome Project

http://www.wikidata.org/entity/Q33608598

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2008 nî lūn-bûn

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2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2008 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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GENETICS. The Human Variome Project

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Anthony J Brookes

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Carol Isaacson Barash

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Carolyn S Richards

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Donna Maglott

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Finlay A Macrae

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Gabriela Möslein

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Garry Cutting

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Graham R Taylor

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Heather J Howard

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Johan T den Dunnen

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What is the Human Variome Project?

London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, pound sterling 1595

Human Variome Project: an international collaboration to catalogue human genetic variation

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.

Recommendations of the 2006 Human Variome Project meeting.

The effect of Mendelian disease on human health: a measurement.

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861-862

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scholarly article

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Jan Helge Solbakk

Rudolph E. Tanzi

Rajkumar Ramesar

Gabriela Möslein

Arleen D. Auerbach

Timothy D Smith

Daniela Seminara

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2008-11-01T00:00:00Z

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