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Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts

Marisa Encarnacao,Isaura Ribeiro,Hugo David,Maria Francisca Coutinho,Dulce Quelhas,Sandra Alves

Genes（2023）

Cited 1|Views11
Key words
Niemann-Pick type C,splicing variants,leaky variants,NPC1 gene,molecular diagnosis
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