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Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from

Shahzeb Hassan1, Grisel Lopez1, Barbara K Stubblefield1

  • 1Medical Genetics Branch NHGRI, NIH, Bethesda, MD, United States.

Molecular Genetics and Metabolism
|July 8, 2018
PubMed

Keywords:
Gaucher diseaseGenotype/phenotype correlationGlucocerebrosidaseSequencing

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