Varaico: Literature-Extracted Genetic Variants

Gene:IFI16
Variant:p.P284S
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IFI16

NM_001376587.1:p.P284S

Associated Papers

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL5__PON_in_red_

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

Castilla-Vallmanya L et al.

International Journal of Molecular Sciences, 2021

33557041 (PubMed )
Supplement: ijms-22-01549-s001.zip › Suppl_Files › Suppl_Table1_Patient_1_Variants.xlsx › Sheet1

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Gomes CC et al.

Nature Communications, 2018

30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3
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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."