Pompe

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Pompe

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:26.811352

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pompe

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:26.811352

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Other names: pompe

Novel disease-associated variants, common sequence variants, and results from newborn screening. The Pompe disease GAA variant database represents an effort to collect all known variants in the GAA gene and is maintained and provide by the Pompe center, Erasmus MC.

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Publications

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening
PMID: 33560568

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:26.811352

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• Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening PubMed citations: 2.

  2 articles citing: Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening

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  Current status of newborn screening for Pompe disease in Japan. PMID:34922579

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  Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience. PMID:34828739

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genotype and phenotype

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:26.811352

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dna polymorphism

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:26.811352

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pathology

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:26.811352

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gene transcripts

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:26.811352

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rna splicing

metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:26.811352

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genotype and phenotype dna polymorphism pathology gene transcripts rna splicing