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Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG

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Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11922042

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG

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United States: John Wiley & Sons, Inc

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Contents

We report on the largest single dataset of patients with PMM2‐CDG enrolled in an ongoing international, multicenter natural history study collecting genetic, clinical, and biological information to evaluate similarities with previous studies, report on novel findings, and, additionally, examine potential genotype/phenotype correlations. A total of...

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Full title

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG

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Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11922042

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11922042

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ISSN

1059-7794,1098-1004

E-ISSN

1098-1004

DOI

10.1155/2024/8813121

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