Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC5
Variant:p.L116R
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DNAJC5

NM_025219.3:p.L116R

Associated Papers

Cysteine string protein α and a link between rare and common neurodegenerative dementias.

Rosene MJ et al.

Npj Dementia, 2025

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Acosta-Uribe J et al.

Genome Medicine, 2022

A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism.

Imler E et al.

Elife, 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."