Varaico: Literature-Extracted Genetic Variants

Gene:HAPLN1
Variant:p.P321S
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HAPLN1

NM_001884.4:p.P321S

Associated Papers

N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.

Budhraja R et al.

Journal of Inherited Metabolic Disease, 2023

36102038 (PubMed )
Supplement: JIMD-46-76-s001.xlsx › Patients
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