A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis - Concepedia

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A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

19

Citations

33

References

2015

Year

Xènia Ferrer-Cortés, Juan Narbona, Núria Bujan, Leslie Matalonga, Mireia del Toro, José Antonio Arranz, E. Riudor, Àngels García‐Cazorla, Cristina Jou, Mar O’Callaghan,

Transcriptional RegulationGenome InstabilityGenetic DisorderMedicineGeneticsNatural SciencesMolecular BiologyMolecular GeneticsParticular Biochemical PhenotypeDisease Gene IdentificationGene ExpressionMolecular DiagnosticsSplicing Variant

References

	Year	Citations

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