Varaico: Literature-Extracted Genetic Variants

Gene:PHACTR1
Variant:p.L536M
Back to variants list

PHACTR1

NM_001322314.4:p.L536M

Associated Papers

Genetic Basis of Hypsarrhythmia: Expanding the PHACTR1 Spectrum and Pathway to Targeted Therapy.

Willième K et al.

Clinical Genetics, 2025

Detection of mosaic variants using genome sequencing in a large pediatric cohort.

Odgis JA et al.

American Journal of Medical Genetics. Part A, 2023

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."