Varaico: Literature-Extracted Genetic Variants

Gene:SYTL4
Variant:p.K552T
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SYTL4

NM_001370165.1:p.K552T

Associated Papers

New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.

Spirito G et al.

Npj Genomic Medicine, 2026

Four Decades of Carrier Detection and Prenatal Diagnosis in Hemophilia A: Historical Overview, State of the Art and Future Directions.

Dardik R et al.

International Journal of Molecular Sciences, 2023

Molecular Mechanisms of Skewed X-Chromosome Inactivation in Female Hemophilia Patients-Lessons from Wide Genome Analyses.

Dardik R et al.

International Journal of Molecular Sciences, 2021

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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."