Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.K543delFs
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NF2

NM_000268.4:p.K543delFs

Associated Papers

Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutation.

Sleiman K et al.

Ophthalmic Genetics, 2025

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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."