Varaico: Literature-Extracted Genetic Variants

Gene:AKTIP
Variant:p.R33*
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AKTIP

NM_022476.4:p.R33*

Associated Papers

Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis.

Fattahi Z et al.

Clinical Genetics, 2025

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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."