A comprehensive global genotype-phenotype database for rare diseases

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Applying Precision Public Health to Prevent Preterm Birth.Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.Patient reported outcome measures in rare diseases: a narrative review.

P2860

Q37736895-00924D01-DB8E-45F1-9371-69778E101AFA Q49957575-D27D0CA6-EE97-4C7E-BB23-D188550FA819 Q52567035-B16538A0-867C-4D0B-8654-2E3775A9411E

P2860

A comprehensive global genotype-phenotype database for rare diseases

Item

http://www.wikidata.org/entity/Q37590457

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh

2016年學術文章

@zh-hant

name

A comprehensive global genotype-phenotype database for rare diseases

@en

A comprehensive global genotype-phenotype database for rare diseases.

@nl

type

Item

label

A comprehensive global genotype-phenotype database for rare diseases

@en

A comprehensive global genotype-phenotype database for rare diseases.

@nl

prefLabel

A comprehensive global genotype-phenotype database for rare diseases

@en

A comprehensive global genotype-phenotype database for rare diseases.

@nl

P1476

A comprehensive global genotype-phenotype database for rare diseases

@en

P2093

Aida M Bertoli-Avella

http://www.w3.org/2001/XMLSchema#string

Arndt Rolfs

http://www.w3.org/2001/XMLSchema#string

Daniel Trujillano

http://www.w3.org/2001/XMLSchema#string

Gabriela-Elena Oprea

http://www.w3.org/2001/XMLSchema#string

Yvonne Schmitz

http://www.w3.org/2001/XMLSchema#string

P2860

An integrated map of genetic variation from 1,092 human genomes

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia

ClinGen--the Clinical Genome Resource

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

Access to a syllabus of human hemoglobin variants (1996) via the World Wide Web.

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

P304

66-75

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/MGG3.262

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Rami Abou Jamra

P577

2016-11-23T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

28116331

http://www.w3.org/2001/XMLSchema#string

P921

Base de dados

rare disease

P932

5241210

http://www.w3.org/2001/XMLSchema#string

A comprehensive global genotype-phenotype database for rare diseases

about

P2860

P2860

A comprehensive global genotype-phenotype database for rare diseases

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921

P932