Varaico: Literature-Extracted Genetic Variants

Gene:ADSS1
Variant:p.P247_K248insFs
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ADSS1

NM_152328.5:p.P247_K248insFs

Associated Papers

Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.

Choi WJ et al.

Scientific Reports, 2024

38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S3

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A

Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma.

Parry M et al.

Plos One, 2013

24349473 (PubMed )
Supplement: pone.0083244.s002.xlsx › Sheet2
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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."