Associated Papers
Neurodevelopmental SHQ1 variants navigate the control of apoptosis, endoplasmic reticulum stress, and oxidative stress in neuroblastoma cells.
Lee HJ et al.
Neuroscience, 2025
Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.
Chi CS et al.
Archives of Disease in Childhood, 2024
In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (SHQ1) from Indian population.
Gowda VK et al.
Journal of Family Medicine and Primary Care, 2024
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.
Chi CS et al.
Human Genetics, 2023
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