Associated Papers
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Rubino E et al.
Alzheimer's Research & Therapy, 2025
39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2
Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.
Kingma SDK et al.
Orphanet Journal of Rare Diseases, 2023
37710296 (PubMed )
Supplement: 13023_2023_2889_MOESM2_ESM.xlsx › Tabel_artikel
Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia.
Alharazy S et al.
Frontiers in Genetics, 2021
Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.
Janicki PK et al.
Molecular Medicine Reports, 2019
30816480 (PubMed )
Supplement: supplement_2.pdf
Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.
Pytel V et al.
Brain and Behavior, 2019
New Mutation of Coenzyme Q10 Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient.
Song CC et al.
Chinese Medical Journal, 2018
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A et al.
Plos One, 2017
28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00011-Table_S14.xlsx › Sheet1
Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.
Parcerisas A et al.
Journal of Alzheimer's Disease : Jad, 2014
25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P1C
Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN.
De Filippo G et al.
Italian Journal of Pediatrics, 2013
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
Aminoff M et al.
Nature Genetics, 1999
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