Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.

about

Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.

Item

http://www.wikidata.org/entity/Q55334031

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh

2018年學術文章

@zh-hant

name

Calculating the statistical si ...... ndelian and complex disorders.

@en

Calculating the statistical si ...... ndelian and complex disorders.

@nl

type

Item

label

Calculating the statistical si ...... ndelian and complex disorders.

@en

Calculating the statistical si ...... ndelian and complex disorders.

@nl

prefLabel

Calculating the statistical si ...... ndelian and complex disorders.

@en

Calculating the statistical si ...... ndelian and complex disorders.

@nl

P1476

Calculating the statistical si ...... ndelian and complex disorders.

@en

P2093

Stanley F Nelson

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

P2860

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

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Loss of δ-catenin function in severe autism

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

The InterPro protein families database: the classification resource after 15 years

ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta

P2888

s12920-018-0371-9

P304

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

P31

scholarly article

P356

10.1186/S12920-018-0371-9

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

P433

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

P478

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

P50

Aliz R Rao

P577

2018-06-13T00:00:00Z

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

P6179

1104559628

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

P698

29898714

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

P921

Amar

P932

6001062

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