Varaico: Literature-Extracted Genetic Variants

Gene:ADD1
Variant:p.S427L
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ADD1

NM_001354761.2:p.S427L

Associated Papers

Characterization of aberrant splicing in pediatric central nervous system tumors reveals CLK1 as a candidate oncogenic dependency.

Naqvi AS et al.

Biorxiv : the Preprint Server for Biology, 2025

39149264 (PubMed )
Supplement: media-5.xlsx › E_sf_mutations

Deep whole genome sequencing identifies recurrent genomic alterations in commonly used breast cancer cell lines and patient-derived xenograft models.

Deng N et al.

Breast Cancer Research : Bcr, 2022

36153537 (PubMed )
Supplement: 13058_2022_1540_MOESM2_ESM.xlsx › SuppTableS2

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
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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."