Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.C11Y
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TYRP1

NM_000550.3:p.C11Y

Associated Papers

Patient mutations in DRP1 perturb synaptic maturation of cortical neurons.

Baum TB et al.

Biorxiv : the Preprint Server for Biology, 2024

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Simeonov DR et al.

Human Mutation, 2013

Role of RNA surveillance proteins Upf1/CpaR, Upf2 and Upf3 in the translational regulation of yeast CPA1 gene.

Messenguy F et al.

Current Genetics, 2002

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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."