Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.A240V
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PSEN2

NM_000447.3:p.A240V

Associated Papers

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.

Pennings M et al.

European Journal of Human Genetics : Ejhg, 2023

36781956 (PubMed )
Supplement: 41431_2023_1312_MOESM4_ESM.pdf
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