Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E312D
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LDLR

NM_000527.5:p.E312D

Associated Papers

NHE9 and Endosomal pH: Converging Mechanisms in Neurodevelopmental, Psychiatric and Neurodegenerative Disorders.

Prasad H

The European Journal of Neuroscience, 2025

Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.

Poeppel P et al.

The Febs Journal, 2005

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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."