Varaico: Literature-Extracted Genetic Variants

Gene:ASTN2
Variant:p.A102_A103del1
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ASTN2

NM_001365068.1:p.A102_A103del1

Associated Papers

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self-limited infantile epilepsy by trios whole-exome sequencing.

Sun Y et al.

Epilepsia Open, 2025

41416966 (PubMed )
Supplement: EPI4-11-280-s001.xlsx › TableS2.de_novo_mutations

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10487.xls › SNVIndel

RUNX1 mutations in blast-phase chronic myeloid leukemia associate with distinct phenotypes, transcriptional profiles, and drug responses.

Adnan Awad S et al.

Leukemia, 2021

32782381 (PubMed )
Supplement: 41375_2020_1011_MOESM5_ESM.xlsx › Mutation_in_Australian_cohort
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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."