In the published article, there was an error. We refer to a specific gene mutation as “p.L484P”. However the correct gene is actually “p.L483P”.
A correction has been made to the Abstract. This sentence previously stated:
“Rapid whole genome sequence showed a compound heterozygote mutation in the GBA1 gene involving a maternally inherited known pathogenic variant, p.L484P, and a paternally inherited novel likely pathogenic variant, p.P358l.”
The corrected sentence appears below:
“Rapid whole genome sequence showed a compound heterozygote mutation in the GBA1 gene involving a maternally inherited known pathogenic variant, p.L483P, and a paternally inherited novel likely pathogenic variant, p.P358l.”
A correction has also been made to Case Presentation, Paragraph 6. This sentence previously stated:
“One variant (p.L484P) was an established disease mutation associated with neuronal subtype of Gaucher disease when present in homozygous state.”
The corrected sentence appears below:
“One variant (p.L483P) was an established disease mutation associated with neuronal subtype of Gaucher disease when present in homozygous state.”
The original article has been updated.
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