Varaico: Literature-Extracted Genetic Variants

Gene:PHETA1
Variant:p.R6C
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PHETA1

NM_144671.6:p.R6C

Associated Papers

Craniofacial Diseases Caused by Defects in Intracellular Trafficking.

Lu CL et al.

Genes, 2021

Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.

Ates KM et al.

Disease Models & Mechanisms, 2020

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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."