Varaico: Literature-Extracted Genetic Variants

Gene:PPM1N
Variant:p.S230L
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PPM1N

NM_001080401.2:p.S230L

Associated Papers

Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder.

Nishioka M et al.

Molecular Psychiatry, 2023

37248276 (PubMed )
Supplement: 41380_2023_2096_MOESM2_ESM.xlsx › TableS4
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