Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.N160Splc
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ADA

NM_000022.4:p.N160Splc

Associated Papers

Omenn Syndrome can Occur during Enzyme Therapy for Adenosine Deaminase Deficiency.

Forbes EM et al.

Journal of Clinical Immunology, 2024

Urogenital Abnormalities in Adenosine Deaminase Deficiency.

Pajno R et al.

Journal of Clinical Immunology, 2020

Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID.

Verhagen MV et al.

Journal of Clinical Immunology, 2020

Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.

Candotti F et al.

Blood, 2012

Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency.

Grunebaum E et al.

The Journal of Allergy and Clinical Immunology, 2012

Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction.

Gaspar HB et al.

Science Translational Medicine, 2011

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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."