Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP3
Variant:p.G1195R
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CNTNAP3

NM_033655.5:p.G1195R

Associated Papers

Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.

Cannizzaro IR et al.

International Journal of Molecular Sciences, 2024

39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › SkinMetas_Prediction_scores

Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsies.

Saracino AM et al.

Archives of Dermatological Research, 2023

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Heft Neal ME et al.

Bmc Cancer, 2021

34051734 (PubMed )
Supplement: 12885_2021_8370_MOESM12_ESM.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."