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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPL13A

Variant:p.L58F

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RPL13A

NM_012423.4:p.L58F

hg38:chr19:49490492 C>T

Associated Papers

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.

Tuovinen EA et al.

Journal of Clinical Immunology, 2020

32072341 (PubMed )

Supplement: 10875_2020_745_MOESM3_ESM.docx

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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."