NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.

about

NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.

Item

http://www.wikidata.org/entity/Q52589124

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

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-hant

name

NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.

@en

NPHP1

@nl

type

Item

label

NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.

@en

NPHP1

@nl

prefLabel

NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.

@en

NPHP1

@nl

P1476

NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD

@en

P2093

Ajay K Israni

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

Albertien M van Eerde

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

Arthur J Matas

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

Barbara Murphy

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

Bert van der Zwaag

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

Brendan J Keating

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

Caragh P Stapleton

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

Edith D J Peters

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

Harold Snieder

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

Jessica van Setten

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

P2860

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.

A global reference for human genetic variation

Nephronophthisis and related syndromes

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

Design and Implementation of the International Genetics and Translational Research in Transplantation Network

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

Estimating prevalence in single-gene kidney diseases progressing to renal failure.

Genetic kidney diseases.

P304

1772-1779

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

P31

scholarly article

P356

10.1681/ASN.2017111200

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

P433

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

P478

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

P50

P577

2018-04-13T00:00:00Z

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

P698

29654215

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

P932

6054334

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