Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.G360Splc
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ADA

NM_000022.4:p.G360Splc

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 2020

Urogenital Abnormalities in Adenosine Deaminase Deficiency.

Pajno R et al.

Journal of Clinical Immunology, 2020

Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.

Adams SP et al.

Clinical Immunology (orlando, Fla.), 2015

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