Varaico: Literature-Extracted Genetic Variants

Gene:RPH3A
Variant:p.E148D
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RPH3A

NM_001143854.2:p.E148D

Associated Papers

Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.

Pavinato L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

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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."