Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation.

about

Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation.

Item

http://www.wikidata.org/entity/Q47112735

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh

2017年學術文章

@zh-hant

name

Juvenile-Onset Diabetes and Co ...... ndromic Diabetes Presentation.

@en

Juvenile-Onset Diabetes and Co ...... ndromic Diabetes Presentation.

@nl

type

Item

label

Juvenile-Onset Diabetes and Co ...... ndromic Diabetes Presentation.

@en

Juvenile-Onset Diabetes and Co ...... ndromic Diabetes Presentation.

@nl

prefLabel

Juvenile-Onset Diabetes and Co ...... ndromic Diabetes Presentation.

@en

Juvenile-Onset Diabetes and Co ...... ndromic Diabetes Presentation.

@nl

P1476

Juvenile-Onset Diabetes and Co ...... yndromic Diabetes Presentation

@en

P2093

Anne Philippi

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

Caroline Lenfant

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

Céline Derbois

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

Marc Nicolino

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

Patrick Baz

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

Pierre Zalloua

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

P2860

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

Crystal structure of truncated human betaB1-crystallin

Fast and accurate short read alignment with Burrows-Wheeler transform

A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes

Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans

Analysis of protein-coding genetic variation in 60,706 humans

The Sequence Alignment/Map format and SAMtools

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans

PIC: Protein Interactions Calculator

P31

scholarly article

P356

10.3390/GENES8110309

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

2017-11-07T00:00:00Z

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

P698

29112131

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

P932

5704222

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