Varaico: Literature-Extracted Genetic Variants

Gene:AGAP5
Variant:p.R593W
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AGAP5

NM_001144000.4:p.R593W

Associated Papers

Steroid hormone receptors, exome sequencing and treatment responsiveness of breast cancer patient-derived xenografts originated in a South American country.

Pataccini G et al.

Scientific Reports, 2025

39827242 (PubMed )
Supplement: 41598_2025_86389_MOESM2_ESM.xlsx › Sheet1

Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content.

Ganesamoorthy D et al.

Bmc Cancer, 2022

35057759 (PubMed )
Supplement: 12885_2021_9160_MOESM1_ESM.xlsx › 065_P0

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Zhou Z et al.

Bmc Medical Genetics, 2018

30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2

Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines.

Liu Z et al.

Gut Microbes, 0

33412999 (PubMed )
Supplement: KGMI_A_1854967_SM8160.zip › Supplementary__files › Supplementary_Tables.xlsx › Table_S1
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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."