Varaico: Literature-Extracted Genetic Variants

Gene:GORASP2
Variant:p.S432F
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GORASP2

NM_015530.5:p.S432F

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 › PL23

Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.

Kim YW et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021

33576571 (PubMed )
Supplement: ALZ-17-831-s002.xlsx › Table_S7

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM6_ESM.xlsx › SD2_-_ExAC_Variants

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
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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."