Associated Papers
Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant.
Armas Samaniego MI et al.
Frontiers in Pediatrics, 2026
Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.
Teferedegn E et al.
American Journal of Medical Genetics. Part A, 2025
RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.
Wallen ZD et al.
Frontiers in Genetics, 2025
40385986 (PubMed )
Supplement: Supplementaryfile1.xlsx › Supplementary_Table_3
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