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Article

The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation?

Ophthalmic genetics - 1 Jun 2008

Eran Pras, Almogit Abu, David Zadok, Wolf Haike Reznik, Hana Garzozi, Yaniv Barkana, Elon Pras, Isaac Avni

Abstract excerpt

PURPOSE: To identify the genetic defect associated with keratoconus (KC) in an Ashkenazi Jewish family and to evaluate its nature and its phenotypic expression within carriers. METHODS: A three generation Ashkenazi Jewish family with KC was ascertained. Diagnosis was based on clinical examination...

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Source

Identifiers

PMID: 18484309
DOI: 10.1080/13816810802008242

Genes

VSX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18484309-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation?PMID 18484309Read ↗

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