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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P2RX7

Variant:p.L439fs

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P2RX7

NM_002562.6:p.L439fs

hg38:chr12:121184329 T>TN

Associated Papers

Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features.

Ferguson PJ et al.

Biomolecules, 2021

33670882 (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."