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Article

A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve.

BMC genomics - 2 May 2018

Law William D, Fogarty Elizabeth A, Vester Aimée, Antonellis Anthony

Abstract excerpt

BACKGROUND: Identifying functional non-coding variation is critical for defining the genetic contributions to human disease. While single-nucleotide polymorphisms (SNPs) within cis-acting transcriptional regulatory elements have been implicated in disease pathogenesis, not all cell types have been assessed and functional validations have been limited. In particular, the cells of the peripheral nervous system have...

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Identifiers

PMID: 29716548
DOI: 10.1186/s12864-018-4692-z
PMCID: PMC5930951

Genes

SOX10

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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