Varaico: Literature-Extracted Genetic Variants

Gene:PNP
Variant:p.Q184*
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PNP

NM_000270.4:p.Q184*

Associated Papers

A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity.

Ripen AM et al.

Clinical and Experimental Immunology, 2021

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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."