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Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.

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Bibliographic Details
Title: Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.
Authors: Wilke, Matheus Vernet Machado Bressan1,2, Panwar, Deepak2, Verheijen, Johannes M.2,3,4, Umeshita, Saori5, Thurman, Sarah Allen6, Nickels, Katherine7, Darr, Kahlen7, Murakami, Yoshiko5, Klee, Eric2,7, Schimmenti, Lisa A.7, schimmenti.lisa@mayo.edu, Pinto e Vairo, Filippo2,7
Source: American Journal of Medical Genetics. Part A; Jan2026, Vol. 200 Issue 1, p171-177, 7p
Database: Applied Science & Technology Source
Description
ISSN:15524825
DOI:10.1002/ajmg.a.64220