Associated Papers
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
SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.
AlHargan A et al.
Human Genome Variation, 2023
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