Associated Papers
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
Elbitar S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32855533 (PubMed )
Supplement: NIHMS1729355-supplement-Supplementary_file.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_2
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