Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.S170del1
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PSEN1

NM_000021.4:p.S170del1

Associated Papers

The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.

Liu H et al.

Brain : a Journal of Neurology, 2025

39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 2-Supplemental_Table1_AR_20250121_JLliF.pdf

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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