Associated Papers
A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis.
Bin Hadyan MF et al.
Molecular Genetics and Metabolism Reports, 2026
Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.
Butz H et al.
Frontiers in Oncology, 2022
35419288 (PubMed )
Supplement: Table_1.xlsx › exome_variants_MAF_0.01
Carbonic Anhydrase-VA Deficiency: A Close Mimicker of Urea Cycle Disorders.
Singanamalla B et al.
Annals of Indian Academy of Neurology, 0
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