A novel likely pathogenic variant in the H1‑4 gene c.139G>C p.(Ala47Pro) associated with Rahman syndrome: a clinical report.
| Autor: | González‑Tarancón, R.1, Salvador‑Rupérez, E.1, Goñi‑Ros, N.1 ngoni.5@alumni.unav.es, Álvarez, S. Izquierdo1, Sánchez‑Navarro, I.2, García, M. Martínez2, Peña Segura, J. L.3, Lafuente, A. López3 |
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| Zdroj: | Egyptian Journal of Medical Human Genetics. 3/5/2022, Vol. 23, p1-5. 5p. |
| Databáze: | Academic Search Ultimate |
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