Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.H374Q
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LIPA

NM_000235.4:p.H374Q

Associated Papers

First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.

Elaraby NM et al.

Journal of Molecular Neuroscience : Mn, 2023

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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."