Varaico: Literature-Extracted Genetic Variants

Gene:ARL13B
Variant:p.I190V
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ARL13B

NM_001174150.2:p.I190V

Associated Papers

Application of whole exome sequencing in carrier screening for high-risk families without probands.

Huang Q et al.

Frontiers in Genetics, 2024

Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding.

Luo FM et al.

Frontiers in Pediatrics, 2021

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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."