Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.
Safranow K et al.
Journal of Applied Genetics, 2011
AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance.
Hanisch F et al.
Journal of Neurology, 2008
Haplotype analysis of human AMPD1 gene: origin of common mutant allele.
Toyama K et al.
Journal of Medical Genetics, 2004
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