Varaico: Literature-Extracted Genetic Variants

Gene:RPIA
Variant:p.G254delFs
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RPIA

NM_144563.3:p.G254delFs

Associated Papers

Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA.

Kaur P et al.

European Journal of Medical Genetics, 2019

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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."