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Semantic proximity does not establish scientific evidence.

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PW02-030 - Clinical phenotype in individuals with Q703KDOI 10.1186/1546-0096-11-s1-a171
Editors' Note: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis.Semantic proximity
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?Semantic proximity
Reader Response: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis.Semantic proximity
Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.Semantic proximity
Author Response: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis.Semantic proximity
Molecular basis for the p and P(k) phenotypes in three Chinese individuals.Semantic proximity
EAS Consensus Panel statement on homozygous FH.Semantic proximity
The true culprit within the SPINK1 p.N34S-containing haplotype is still at large.Semantic proximity
Genetic, clinical, molecular, and pathogenic aspects of the South Asian–specific polymorphic MYBPC3Δ25bp variantSemantic proximity
P02-024 - Clinical impact of V198M mutation in NLRP3 geneSemantic proximity
A novel c.29-3C>G variant on the B allele forms the Bel phenotype.Semantic proximity
POLR3A-related disorders: expanding the clinical phenotype.Semantic proximity
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