Varaico: Literature-Extracted Genetic Variants

Gene:RUSC1
Variant:p.R400P
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RUSC1

NM_001105203.2:p.R400P

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

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Li Y et al.

Frontiers in Oncology, 2022

36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1
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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."