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Article

Mutations of TOPORS identified in families with retinitis pigmentosa.

Ophthalmic genetics - 1 Jun 2022

He Kaiwen, Zhou Yunyu, Li Ningdong

Abstract excerpt

PURPOSE: To identify TOPORS mutations in patients with retinitis pigmentosa (RP) from our cohort and summarize the genotypes and phenotypes of TOPORS reported previously. METHOD: Probands with RP phenotypes were recruited from our genetic retinopathy screening work. DNA was extracted from the peripheral venous blood, and exome sequencing was performed. We further examined the clinical data and family history in...

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PMID: 35254173
DOI: 10.1080/13816810.2022.2039721

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Mutations of TOPORS identified in families with retinitis pigmentosa.PMID 35254173Read ↗

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