Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I138_M139insFs
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PSEN1

NM_000021.4:p.I138_M139insFs

Associated Papers

The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.

Du J et al.

Annals of Medicine, 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."