Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

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Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

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2017 nî lūn-bûn

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2017年学术文章

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Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

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Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

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Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

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Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

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Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

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Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

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P1476

Novel COL4A2 variant in a large pedigree: Consequences and dilemmas

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P2093

B Lynch

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N M Allen

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O Flanagan

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S A Lynch

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P2860

Mammalian collagen IV

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identificati

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.

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447-448

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scholarly article

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10.1111/CGE.13016

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P478

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Matthew McGovern

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2017-05-25T00:00:00Z

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28542708

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