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Article

Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi.

The British journal of dermatology - 1 Feb 2020

Polubothu S, McGuire N, Al-Olabi L, Baird W, Bulstrode N, Chalker J, Josifova D, Lomas D, O'Hara J, Ong J, Rampling D, Stadnik P, Thomas A, Wedgeworth E, Sebire N J, Kinsler V A

Abstract excerpt

BACKGROUND: Genotype-phenotype studies can identify subgroups of patients with specific clinical features or differing outcomes, which can help shape management. OBJECTIVES: To characterize the frequency of different causative genotypes in congenital melanocytic naevi (CMN), and to investigate genotype-phenotype and genotype-outcome associations. METHODS: We conducted a large cohort study in which we undertook...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Nevus, Pigmented

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Share to Proto-Oncogene Proteins B-raf

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Source

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Identifiers

PMID: 31111470
DOI: 10.1111/bjd.18106
PMCID: PMC7028140

Genes

BRAF
NRAS
MC1R

Provenance

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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