Varaico: Literature-Extracted Genetic Variants

Gene:CA5A
Variant:p.H158P
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CA5A

NM_001739.2:p.H158P

Associated Papers

A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion.

Mathew RP et al.

American Journal of Medical Genetics. Part A, 2024

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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."