Varaico: Literature-Extracted Genetic Variants

Gene:RBP4
Variant:p.E99K
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RBP4

NM_006744.4:p.E99K

Associated Papers

Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature.

Zhang Z et al.

Diagnostics (basel, Switzerland), 2025

41464097 (PubMed )
Supplement: diagnostics-15-03097-s001.zip › Table_S2.xls › Genetic_Analysis_Variant_List

A dominant variant in apoptosis-related gene XKR8 is relevant to hereditary auditory neuropathy.

Chen K et al.

Journal of Translational Medicine, 2023

37101210 (PubMed )
Supplement: 12967_2023_4139_MOESM1_ESM.xlsx › all.byhand.hg19
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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."