Associated Papers
Understanding brain calcification via N-terminal acetylation at the Golgi apparatus.
Siggervåg A et al.
Brain : a Journal of Neurology, 2025
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V et al.
Nature Communications, 2024
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
35687490 (PubMed )
Supplement: advancesADV2021006654-suppl12.xlsx › Blad1
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
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