• Mutation; HGNC; HGNC:4135; GALT; Simple; p.Val44Met (c.130G>A); ClinVar=VCV000003611; Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; HGNC:4135; GALT; Simple; p.Met142Lys (c.425T>A); ClinVar=VCV000003609; Zygosity=Heterozygous (from parent cell line).
  

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CLPUB00447
Mulivor R.A., Suchy S.F.
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