Associated Papers
A Novel Frameshift Variant in KIF11 Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family.
Zhang J et al.
Genetic Testing and Molecular Biomarkers, 2025
41342634 (PubMed )
Supplement: sj-pdf-1-gtm-10.1177_19450265251401002.pdf
Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.
Handoko et al.
Scientific Reports, 2025
40594369 (PubMed )
Supplement: 41598_2025_6096_MOESM1_ESM.xlsx › S1
Genomic alterations in normal breast tissues preceding breast cancer diagnosis.
Dai J et al.
Breast Cancer Research : Bcr, 2025
40264151 (PubMed )
Supplement: 13058_2025_2018_MOESM1_ESM.xlsx › Table_S1
Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.
Tang QY et al.
Imetaomics, 2025
41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.
Gogate A et al.
Npj Genomic Medicine, 2024
39632905 (PubMed )
Supplement: 41525_2024_444_MOESM2_ESM.xlsx › Supplementary_Data_5
Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes.
Liu Z et al.
Genetic Testing and Molecular Biomarkers, 2024
38837151 (PubMed )
Supplement: sj-pdf-3-gtm-10.1089_gtmb.2023.0263.pdf
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.
Lin D et al.
Bmc Medical Genomics, 2023
36703207 (PubMed )
Supplement: 12920_2023_1442_MOESM3_ESM.xlsx › Sheet1
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
Milanowski LM et al.
International Journal of Molecular Sciences, 2022
35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S1.xlsx › Homozygotes
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