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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UNC13D

Variant:p.Q51_R52Splc

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UNC13D

NM_199242.3:p.Q51_R52Splc

hg38:chr17:75843483 C>T

Associated Papers

SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis.

Yang X et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2012

22672194 (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."