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Article

Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia.

Human mutation - 1 Jan 1998

Saunders G F, Chao L Y

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Source

Identifiers

PMID: 9452088
DOI: 10.1002/humu.1380110167

Genes

PAX6

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.

Related research

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

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Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia.PMID 9452088Read ↗

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Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family.Semantic proximity Read ↗

Ten novel mutations found in Aniridia.Semantic proximity Read ↗

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Genetics and epidemiology of aniridia: Updated guidelines for genetic study.Semantic proximity Read ↗

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Novel variants in the PAX6 gene related to isolated aniridia.Semantic proximity Read ↗

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