Varaico: Literature-Extracted Genetic Variants

Gene:DDX59
Variant:p.L368P
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DDX59

NM_001031725.6:p.L368P

Associated Papers

Characterization of rare germline variants in familial multiple myeloma.

Catalano C et al.

Blood Cancer Journal, 2021

33583942 (PubMed )
Supplement: 41408_2021_422_MOESM1_ESM.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 289.143

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.

Roberts JL et al.

Proceedings of the National Academy of Sciences of the United States of America, 2012

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