Varaico: Literature-Extracted Genetic Variants

Gene:CSTA
Variant:p.E94K
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CSTA

NM_005213.4:p.E94K

Associated Papers

In silico evaluation of missense SNPs in cancer-associated Cystatin A protein and their potential to disrupt Cathepsin B interaction.

Hossain S et al.

Heliyon, 2025

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 321.156
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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."