Associated Papers
Clinical and Immunologic Features of a Patient With Homozygous FNIP1 Variant.
Ulaş S et al.
Journal of Pediatric Hematology/oncology, 2024
Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism.
Wang H et al.
Frontiers in Endocrinology, 2021
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
Oliver GR et al.
Plos One, 2019
31577830 (PubMed )
Supplement: pone.0223337.s002.xlsx › SuppTable2_Variants_of_interest
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