Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.A2S
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INS

NM_000207.3:p.A2S

Associated Papers

Different somatic alterations of the HRPT2 gene in a patient with recurrent sporadic primary hyperparathyroidism carrying an HRPT2 germline mutation.

Cetani F et al.

Endocrine-related Cancer, 2007

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Buratti E et al.

Nucleic Acids Research, 2007

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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."