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Article

Unveiling hidden genetic complexity: Coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy.

American journal of medical genetics. Part A - 1 Nov 2024

Lin Siying, Schiff Elena, Arno Gavin, Mahroo Omar A, Webster Andrew R

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Share to Eye Proteins
Share to Genetic Predisposition to Disease
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Share to Retinal Dystrophies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38988050
DOI: 10.1002/ajmg.a.63805

Genes

EYS
HGSNAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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