Associated Papers
Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.
Wang T et al.
Clinical Case Reports, 2024
38292225 (PubMed )
Supplement: CCR3-12-e8453-s001.xlsx › SNP
Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development.
Jin HJ et al.
Elife, 2023
38126872 (PubMed )
Supplement: elife-92769-fig2-data1.zip › Figure_2-source_data_1 › Figure_2-source_data_1 › Figure_2-source_data_1.xlsx › Table
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.
Ling C et al.
Bmc Medical Genetics, 2019
30642278 (PubMed )
Supplement: 12881_2018_725_MOESM2_ESM.xlsx › Sheet1
Select a paper to view details