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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOSC5

Variant:p.S128_L129Splc

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EXOSC5

NM_020158.4:p.S128_L129Splc

hg38:chr19:41391840 C>T

Associated Papers

Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome.

Lee PP et al.

Journal of Clinical Immunology, 2009

19308710 (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."