Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract

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Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts

P2860

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P2860

Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract

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http://www.wikidata.org/entity/Q36127409

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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2016年學術文章

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name

Case report of homozygous dele ...... TFAP2A in congenital cataract

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Case report of homozygous dele ...... TFAP2A in congenital cataract

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type

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Case report of homozygous dele ...... TFAP2A in congenital cataract

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Case report of homozygous dele ...... TFAP2A in congenital cataract

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prefLabel

Case report of homozygous dele ...... TFAP2A in congenital cataract

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Case report of homozygous dele ...... TFAP2A in congenital cataract

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P1476

Case report of homozygous dele ...... TFAP2A in congenital cataract

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P2093

Deborah Costakos

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Eric Weh

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

Hannah Happ

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

Linda M Reis

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P2860

3' deletions cause aniridia by preventing PAX6 gene expression

The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts

TFAP2A mutations result in branchio-oculo-facial syndrome

Pediatric cataract: challenges and future directions

Lanosterol reverses protein aggregation in cataracts

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

Alu repeats and human disease

Copy number variation detection and genotyping from exome sequence data.

Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen.

A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.

P2888

s12881-016-0316-0

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scholarly article

case report

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10.1186/S12881-016-0316-0

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Elena V Semina

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2016-09-08T00:00:00Z

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1031163998

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27609212

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birth defect

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5016880

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Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract

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P2860

P2860

Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698

P921

P932