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Search Results - Elbalalesy, N M
Search Results - Elbalalesy, N M
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Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease
by
Sremba, L J
,
Chang, R C
,
Elbalalesy, N M
,
Cambray-Forker, E J
,
Abdenur, J E
Published in
Molecular genetics and metabolism reports
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Molecular Genetics And Metabolism Reports
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Basal Ganglia
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Biotin Thiamine Responsive Basal Ganglia Disease
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Btbgd
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Genetics & Heredity
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Leigh Syndrome
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Life Sciences & Biomedicine
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Short Communication
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Slc19A3
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Thiamine Transporter-2
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