Report of two unrelated families with Jalili syndrome and a novel nonsense heterozygous mutation in CNNM4 gene - Concepedia

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Report of two unrelated families with Jalili syndrome and a novel nonsense heterozygous mutation in CNNM4 gene

14

Citations

17

References

2018

Year

Célia Márcia Fernandes Maia, Renato Assis Machado, Vera Lúcia Gil‐da‐Silva‐Lopes, Elaine Lustosa‐Mendes, Priscila Hae Hyun Rim, Verônica Oliveira Dias, Daniella Reis Barbosa Martelli, Luciano Sólia Násser, Ricardo D. Coletta, Hercílio Martelli‐Júnior

European Journal of Medical Genetics

Mendelian DisorderJalili SyndromeGenetic DisorderGeneticsCnnm4 GenePathologyMolecular GeneticsDisease Gene IdentificationGenomicsMedicineUnrelated FamiliesClinical Genetics

References

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