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A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment

Yoav Zehavi; Ann Saada; Haneen Jabaly-Habib; Moshe Dessau; Avraham Shaag; Orly Elpeleg; Ronen Spiegel
Metabolic Brain Disease · Vol. 36, Issue 4 · pp. 581-588 · 2021
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Bibliographic Information

JournalMetabolic Brain Disease
PublisherSpringer
Publication Date2021-04-01
Publication Year2021
Volume36
Issue4
Pages581-588
Document TypeJournal Article
eISSN1573-7365
DOI10.1007/s11011-021-00671-1

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NARA Access Coverage1986-01-01~Current
Journal Homepagehttps://www.springer.com/journal/11011
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