Varaico: Literature-Extracted Genetic Variants

Gene:FRYL
Variant:p.G105E
Back to variants list

FRYL

NM_015030.2:p.G105E

Associated Papers

Neurodevelopmental Disorder with Psychomotor Delay, Hearing Loss, and Spasticity Caused by Compound Heterozygous SPATA5L1 Variants-Expanding Phenotype.

Polczyk A et al.

Journal of Clinical Medicine, 2025

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."