Associated Papers
Variants in the SARS2 gene cause HUPRA syndrome with atypical features: two case reports and review of the literature.
Lahham EE et al.
Oxford Medical Case Reports, 2023
Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease.
Yu T et al.
Nucleic Acids Research, 2022
Novel variants of seryl-tRNA synthetase resulting in HUPRA syndrome featured in pulmonary hypertension.
Yang F et al.
Frontiers in Cardiovascular Medicine, 2022
Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia.
Colin E et al.
Haematologica, 2021
Novel SARS2 variants identified in a Chinese girl with HUPRA syndrome.
Zhou Y et al.
Molecular Genetics & Genomic Medicine, 2021
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