Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation.

J Investig Med High Impact Case Rep · 2021 · PMC8155745 · PMID 34032155

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indeterminate significanceno p-value reported

9 Our patient’s case is unusual in that, based on gene sequencing, laboratory, and clinical findings, she is a compound heterozygote for a previously unreported nonsense mutation and a missense mutation of indeterminate significance ( Figure 1 ).

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