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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTPS2

Variant:p.M1delFs

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CTPS2

NM_175859.3:p.M1delFs

hg38:chrX:16702900 CA>C

Associated Papers

Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life.

Bougarn S et al.

Journal of Clinical Immunology, 2024

39312089 (PubMed )

Supplement: 10875_2024_1804_MOESM1_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."