Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1E1
Variant:p.R212W
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ATP6V1E1

NM_001696.4:p.R212W

Associated Papers

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

AlAbdi L et al.

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

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

AlAbdi L et al.

Nature Communications, 2023

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.

Alazami AM et al.

Human Genetics, 2016

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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."