Varaico: Literature-Extracted Genetic Variants

Gene:AGBL4
Variant:p.R215Q
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AGBL4

NM_032785.4:p.R215Q

Associated Papers

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine.

Fontana D et al.

Nature Communications, 2020

33230096 (PubMed )
Supplement: 41467_2020_19721_MOESM16_ESM.xlsx › Sheet1

Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.

Ganesh S et al.

Psychiatry and Clinical Neurosciences, 2019

30367527 (PubMed )
Supplement: PCN-73-11-s002.xlsx › Table_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."