Varaico: Literature-Extracted Genetic Variants

Gene:POMT1
Variant:p.Y699*
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POMT1

NM_001077365.2:p.Y699*

Associated Papers

Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.

Puertas-Neyra K et al.

Stem Cell Research & Therapy, 2024

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

Manzini MC et al.

Human Mutation, 2008

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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."