Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.K239ins1
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PSEN1

NM_000021.4:p.K239ins1

Associated Papers

Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.

You C et al.

Frontiers in Neurology, 2020

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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."