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Genomics of rare genetic diseases-experiences from India.
Hum Genomics. 2019 Sep 25;14(1):52. doi: 10.1186/s40246-019-0215-5.
Hum Genomics. 2019.
PMID: 31554517
Free PMC article.
Review.
Prolonged Episodic Dystonia in Tyrosine Hydroxylase Deficiency Due to Homozygous c.698G>A (p.Arg233His) Mutation-A Diagnostic Challenge.
Panda S, Jain S, Dholakia D, Uppilli BR, Faruq M.
Panda S, et al. Among authors: uppilli br.
Mov Disord Clin Pract. 2022 Aug 10;9(8):1136-1139. doi: 10.1002/mdc3.13522. eCollection 2022 Nov.
Mov Disord Clin Pract. 2022.
PMID: 36339310
Free PMC article.
No abstract available.
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