Mutations in the CTSD gene cause NCL with onset around birth or in early childhood, or at later ages. Recent studies have shown homozygous mutations occurring in other disease phenotypes.
mutation table to download
patient table to download
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Mutations in the CTSD gene cause NCL with onset around birth or in early childhood, or at later ages. Recent studies have shown homozygous mutations occurring in other disease phenotypes.
mutation table to download
patient table to download