Novel PAX6 mutation reported in an aniridia patient.

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Novel PAX6 mutation reported in an aniridia patient.

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2017 nî lūn-bûn

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2017年学术文章

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Novel PAX6 mutation reported in an aniridia patient.

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Novel PAX6 mutation reported in an aniridia patient.

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Novel PAX6 mutation reported in an aniridia patient.

@en

Novel PAX6 mutation reported in an aniridia patient.

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Novel PAX6 mutation reported in an aniridia patient.

@en

Novel PAX6 mutation reported in an aniridia patient.

@nl

P1476

Novel PAX6 mutation reported in an aniridia patient

@en

P2093

Kohji Nishida

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Nozomi Nishida

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Satoshi Kawasaki

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Yoshinori Oie

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P2860

PAX6 mutation as a genetic factor common to aniridia and glucose intolerance

PAX6 mutations: genotype-phenotype correlations

High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.

Aniridia: current pathology and management.

Genotype-phenotype correlation of PAX6 gene mutations in aniridia

P2888

hgv.2017.53

P304

17053

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P31

scholarly article

P356

10.1038/HGV.2017.53

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P478

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P50

Andrew Winegarner

P577

2017-12-07T00:00:00Z

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P698

29238604

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P921

aniridia

P932

5719187

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