Associated Papers
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
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
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.
Liu Y et al.
Bmc Oral Health, 2024
38280992 (PubMed )
Supplement: 12903_2024_3888_MOESM2_ESM.xls › Supplementary_Table_1
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S1.The_information_of_annotated_gene_mutations1.xlsx › ___
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