2013•Genetics in MedicineOpen access

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Yuji Okamoto, Meryem Tuba Goksungur, Davut Pehli̇van, Christine R. Beck, Claudia Gonzaga‐Jauregui, Donna M. Muzny, Mehmed M. Atik, Claudia M.B. Carvalho, Zeliha Matur, Şerife Bayraktar, Philip M. Boone, Kaya Akyüz, Richard A. Gibbs, Esra Battaloğlu, Yeşim Parman, James R. Lupski

Open full text 36 citations

Abstract

This record does not include an abstract. Use the full-text link above if available.

About this research paper

What this paper is about

An abstract is not available in the OpenAlex record for this paper.

Why it matters

OpenAlex reports 36 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Key concepts: Copy-number variation, Gene duplication, Comparative genomic hybridization, Genetics, Biology, Gene, Gene dosage, Breakpoint