Varaico: Literature-Extracted Genetic Variants

Gene:WDTC1
Variant:p.D104G
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WDTC1

NM_001276252.2:p.D104G

Associated Papers

Phenotypic spectrum of SLC25A4 mutations.

Finsterer J et al.

Biomedical Reports, 2018

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

Doimo M et al.

Human Mutation, 2013

A hybrid model to study pathological mutations of the human ADP/ATP carriers.

Thomas A et al.

Biochimie, 2011

ADP/ATP mitochondrial carrier MD simulations to shed light on the structural-dynamical events that, after an additional mutation, restore the function in a pathological single mutant.

Di Marino D et al.

Journal of Structural Biology, 2010

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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."