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Article

A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.

Human genetics - 1 Nov 2016

Drew Alexander P, Cutrupi Anthony N, Brewer Megan H, Nicholson Garth A, Kennerson Marina L

Abstract excerpt

Distal hereditary motor neuropathies predominantly affect the motor neurons of the peripheral nervous system leading to chronic disability. Using whole genome sequencing (WGS) we have identified a novel structural variation (SV) within the distal hereditary motor neuropathy locus on chromosome 7q34-q36.2 (DHMN1). The SV involves the insertion of a 1.35 Mb DNA fragment into the DHMN1 disease locus. The source of...

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Share to Chromosomes, Human, Pair 7
Share to Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genomic Structural Variation

Share to Motor Neurons

Share to Muscular Atrophy, Spinal

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Source

Identifiers

PMID: 27487800
DOI: 10.1007/s00439-016-1720-4

Genes

LMBR1
MNX1
NOM1
RNF32

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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