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Article

Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.

Disease models & mechanisms - 1 Jan 2023

Scelsi Hailee F, Hill Kamisha R, Barlow Brett M, Martin Mackenzie D, Lieberman Raquel L

Abstract excerpt

Accurate predictions of the pathogenicity of mutations associated with genetic diseases are key to the success of precision medicine. Inherited missense mutations in the myocilin (MYOC) gene, within its olfactomedin (OLF) domain, constitute the strongest genetic link to primary open-angle glaucoma via a toxic gain of function, and thus MYOC is an attractive precision-medicine target. However, not all mutations in...

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Identifiers

PMID: 36579626
DOI: 10.1242/dmm.049816
PMCID: PMC9844228

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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