Varaico: Literature-Extracted Genetic Variants

Gene:SPPL2A
Variant:p.G34E
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SPPL2A

NM_032802.4:p.G34E

Associated Papers

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

Kong XF et al.

Nature Immunology, 2018

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.

Ta-Shma A et al.

Plos Genetics, 2018

30148830 (PubMed )
Supplement: pgen.1007602.s008.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 266.133
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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."