GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome - Concepedia

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Publication | Open Access

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

DOI Full Paper Access

110

Citations

23

References

2018

Year

Amy Lacroix, Deborah L. Stabley, Rebecca Sahraoui, Margaret P Adam, Michele G. Mehaffey, Kelly Kernan, Candace T. Myers, Carrie Fagerstrom, George Anadiotis, Yassmine Akkari,

The American Journal of Human Genetics

Baratela-scott SyndromeGgc Repeat ExpansionExon 1Genetic DisorderGeneticsPathogenesisInherited Metabolic DiseasePathologyMolecular GeneticsDisease Gene IdentificationMedicineEpigeneticsVariant InterpretationClinical Genetics

References

	Year	Citations

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