A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis

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Tarih

2019

Yazarlar

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ISSN

Cilt

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Yayınevi

HUMANA PRESS INC

Özet

Açıklama

Anahtar kelimeler

WDR45, Mosaicism, Whole exome sequencing, X chromosome heterozygosity, BPAN

Alıntı

URI

https://openaccess.acibadem.edu.tr/handle/11443/8075

Koleksiyonlar

WOS

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