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Browsing by Author "Rodríguez‑de la Rúa, Enrique"
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Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open‑access tools: hidden recessive inheritance and potential oligogenic variants
González‑del Pozo, María; Fernández‑Suárez, Elena; Martín‑Sánchez, Marta; Bravo‑Gil, Nereida; Méndez‑Vidal, Cristina; Rodríguez‑de la Rúa, Enrique; Antiñolo Gil, Guillermo (BMC, 2020)Background: Retinitis Pigmentosa (RP) is a clinically and genetically heterogeneous disorder that results in inher‑ ited ...