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Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants.

Human mutation - 1 Jan 1992

He G S, Grace M E, Grabowski G A

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PMID: 1301953
DOI: 10.1002/humu.1380010513

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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