Varaico: Literature-Extracted Genetic Variants

Gene:ASH1L
Variant:p.R1535C
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ASH1L

NM_018489.3:p.R1535C

Associated Papers

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

Aspromonte MC et al.

Human Genetics, 2025

40019509 (PubMed )
Supplement: 439_2025_2733_MOESM2_ESM.xlsx › Table_S2

Blastic plasmacytoid dendritic cell neoplasm: genomics mark epigenetic dysregulation as a primary therapeutic target.

Sapienza MR et al.

Haematologica, 2019

30381297 (PubMed )
Supplement: 2018.202093.SAPIENZA_SUPPL.pdf
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