Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R1
Variant:p.D548_K550delFs
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PIK3R1

NM_181523.3:p.D548_K550delFs

Associated Papers

Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance.

Szczawińska-Popłonyk A et al.

Allergologia Et Immunopathologia, 2022

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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."