Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.F202delFs
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LDLR

NM_000527.5:p.F202delFs

Associated Papers

Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia.

Yan H et al.

Chinese Medical Journal, 2020

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