Varaico: Literature-Extracted Genetic Variants

Gene:PPP4R1
Variant:p.D21E
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PPP4R1

NM_001042388.3:p.D21E

Associated Papers

ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.

Trotta L et al.

The Journal of Allergy and Clinical Immunology, 2018

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1164.429
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."