Associated Papers
Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft.
Zhao H et al.
Protein & Cell, 2024
38695759 (PubMed )
Supplement: pwae021_suppl_supplementary_figures_s1-s10_tables_s1-s2.pdf
In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.
Kasai S et al.
Pediatric Blood & Cancer, 2024
38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs
Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.
Zhou X et al.
Frontiers in Medicine, 2021
34778325 (PubMed )
Supplement: Data_Sheet_2.PDF
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3
Three GLI2 mutations combined potentially underlie non-syndromic cleft lip with or without cleft palate in a Chinese pedigree.
Meng P et al.
Molecular Genetics & Genomic Medicine, 2019
31386309 (PubMed )
Supplement: MGG3-7-e714-s001.pdf
Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines.
Liu Z et al.
Gut Microbes, 0
33412999 (PubMed )
Supplement: KGMI_A_1854967_SM8160.zip › Supplementary__files › Supplementary_Tables.xlsx › Table_S1
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