Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.K53_T54insAGA
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INS

NM_000207.3:p.K53_T54insAGA

Associated Papers

Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.

Angelini M et al.

Human Molecular Genetics, 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."