Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.G519fs
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PPM1D

NM_003620.4:p.G519fs

Associated Papers

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

Kennedy AL et al.

Nature Communications, 2021

33637765 (PubMed )
Supplement: 41467_2021_21588_MOESM1_ESM.pdf

Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Bick AG et al.

Nature, 2020

33057201 (PubMed )
Supplement: NIHMS1609346-supplement-1609346_SuppTables.xlsx › S3

Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.

Wong TN et al.

Nature Communications, 2018

29386642 (PubMed )
Supplement: 41467_2018_2858_MOESM5_ESM.xlsx › Sheet1
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