A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing – Clinical characteristics of mutation carriers - Concepedia

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A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing – Clinical characteristics of mutation carriers

DOI Full Paper Access

24

Citations

14

References

2016

Year

Magdalena Szopa, Agnieszka H. Ludwig‐Słomczyńska, Piotr Radkowski, Jan Skupień, Julita Machlowska, Tomasz Klupa, Maciej Borowiec, Wojciech Młynarski, Maciej T. Małecki

European Journal of Medical Genetics

Neurodegenerative DiseasesMendelian DisorderNeurogenomicsGenetic DisorderMedicineGeneticsNeurogeneticsNeurologyNeuroscienceNeurod1 GeneArg103pro MutationDisease Gene IdentificationMonogenic DisordersSynaptic SignalingClinical GeneticsMutation Carriers

References

	Year	Citations

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