Varaico: Literature-Extracted Genetic Variants

Gene:AIRIM
Variant:p.R75P
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AIRIM

NM_001350770.2:p.R75P

Associated Papers

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders.

Ni C et al.

Biorxiv : the Preprint Server for Biology, 2024

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

AlAbdi L et al.

Genome Medicine, 2023

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM2_ESM.pdf
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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."