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ngly1_deficiency [2025/03/10 20:26] – Scott Larsonngly1_deficiency [2025/03/10 20:28] (current) – [Resources] Scott Larson
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     * degrades misfolded proteins in the endoplasmic reticulum      * degrades misfolded proteins in the endoplasmic reticulum 
 ====Resources==== ====Resources====
-  * [[link|Title]]+  * {{ ::ocular_feature_of_ngly1_deficiency_from_a_prospective_lingitudinal_cohort_2023.pdf |Frater CH et al. Ocular features of NGLY1 deficiency from a prospective longitudinal cohort. J AAPOS 2024;28:103925}}
  
 {{tag>syndrome}} {{tag>syndrome}}