Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.D61del1
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PSEN2

NM_000447.3:p.D61del1

Associated Papers

Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.

Li D et al.

Molecular Genetics & Genomic Medicine, 2024

38037515 (PubMed )
Supplement: MGG3-12-e2327-s001.xlsx › Sheet1
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