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Article

Genotype-phenotype correlations in von Hippel-Lindau disease.

Journal of internal medicine - 1 Jun 1998

Neumann H P, Bender B U

Abstract excerpt

A total of 146 intragenic germline mutations of the von Hippel-Lindau (VHL) gene are known and this figure is still increasing. To date, information for mutation-specific genetic counselling is insufficient, since either the total number of carriers is very low or clinical information and investigation of symptomatic and asymptomatic is incomplete. This review summarizes all known mutations and includes the...

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Source

Identifiers

PMID: 9681856
DOI: 10.1046/j.1365-2796.1998.00336.x

Genes

VHL

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Genotype-phenotype correlations in von Hippel-Lindau disease.PMID 9681856Read ↗

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Genotype-phenotype correlation in von Hippel-Lindau syndrome.Semantic proximity Read ↗

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Genotype-phenotype correlation in von Hippel-Lindau disease.Semantic proximity Read ↗

Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.Semantic proximity Read ↗

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