An Ongoing Collaboration the Association for Creatine Deficiencies and the Clinical Genome Resource Work Together to Facilitate Variant Classification
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Pdf Summary
Keywords
ClinGen CCDS VCEP
ACD
GenomeConnect
Cerebral Creatine Deficiency Syndromes
variants
genes
GATM
GAMT
SLC6A8
variant classification
Jennifer Goldstein (jennifer.goldstein@unc.edu)

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