Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.G669S
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ASXL1

NM_015338.6:p.G669S

Associated Papers

Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft.

Zhao H et al.

Protein & Cell, 2024

38695759 (PubMed )
Supplement: pwae021_suppl_supplementary_figures_s1-s10_tables_s1-s2.pdf

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › VUS

Genetic modification of primary human B cells to model high-grade lymphoma.

Caeser R et al.

Nature Communications, 2019

31586074 (PubMed )
Supplement: 41467_2019_12494_MOESM6_ESM.xlsx › Merged_Variants_MUT_CAV
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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."