Associated Papers
The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders.
Yılmaz M et al.
American Journal of Medical Genetics. Part A, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM12_ESM.xlsx › Sheet1
Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant.
Maddirevula S et al.
Human Genetics, 2022
Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability.
Waqas A et al.
Frontiers in Genetics, 2022
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