Biochemical, Clinical, and Functional Characterization of a Rare c.‐ 106C >A Promoter Region Variant in Late‐Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series

Fuente: Wiley Open Access

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Bibliographic Details
Main Authors:	Samuel Quinn Tholl, Wendy McCaul, Anthony Rupar, Melanie P. Napier, Natalya Karp, Andrea C. Yu, Suzanne Ratko, Aneal Khan, Michael Geraghty, Chitra Prasad
Format:	Artículo Open Access
Published:	Wiley 2026
Subjects:	JIMD Reports
Online Access:	Acceder al recurso
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