Varaico: Literature-Extracted Genetic Variants

Gene:SPPL2A
Variant:p.T475S
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SPPL2A

NM_032802.4:p.T475S

Associated Papers

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Kong XF et al.

Nature Immunology, 2018

Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines.

Liu Z et al.

Gut Microbes, 0

33412999 (PubMed )
Supplement: KGMI_A_1854967_SM8160.zip › Supplementary__files › Supplementary_Tables.xlsx › Table_S1
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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."