A novel likely pathogenic variant in the H1-4 gene c.139G > C p.(Ala47Pro) associated with Rahman syndrome: a clinical report

González-Tarancón, R.; Salvador-Rupérez, E.; Goñi-Ros, N.; Álvarez, S. Izquierdo; Sánchez-Navarro, I.; García, M. Martínez; Segura, J. L. Peña; Lafuente, A. López

doi:10.1186/s43042-022-00265-1

Egyptian Journal of Medical Human Genetics

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Last updated: Thu, 25 Apr 2024 21:10:27 Z

A novel likely pathogenic variant in the H1-4 gene c.139G > C p.(Ala47Pro) associated with Rahman syndrome: a clinical report

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