Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.L42Q
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SLC22A5

NM_003060.4:p.L42Q

Associated Papers

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.

Crefcoeur L et al.

Journal of Medical Genetics, 2023

37487700 (PubMed )
Supplement: jmg-2023-109206supp001.pdf
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