Varaico: Literature-Extracted Genetic Variants

Gene:OCLN
Variant:p.L153S
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OCLN

NM_001205254.2:p.L153S

Associated Papers

A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature.

Talea A et al.

Molecular Syndromology, 2025

A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report.

Ng VKS et al.

Diagnostics (basel, Switzerland), 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."