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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SOS1

Variant:p.V48fs

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SOS1

NM_005633.4:p.V48fs

hg38:chr2:39067697 A>AN

Associated Papers

Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.

Giliani S et al.

Immunological Reviews, 2005

15661025 (PubMed )

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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."