Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.R904*
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IQSEC2

NM_001111125.3:p.R904*

Associated Papers

Case Report: Mixed ductal-lobular carcinoma consisting of invasive lobular carcinoma with a glycogen-rich clear cell pattern and elevated tumor mutation burden.

Kawachi K et al.

Frontiers in Oncology, 2026

41669107 (PubMed )
Supplement: Table1.xlsx › Suppl._Table_S1

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K et al.

Scientific Reports, 2024

39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30206421 (PubMed )
Supplement: 41436_2018_268_MOESM4_ESM.xlsx › Table_S2
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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."