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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CXCR4

Variant:p.S339C

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CXCR4

NM_003467.3:p.S339C

hg38:chr2:136114912 G>C

Associated Papers

Genotype-phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4WHIM variants.

Zmajkovicova K et al.

Genes and Immunity, 2022

36089616 (PubMed )

Supplement: 41435_2022_181_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."