Varaico: Literature-Extracted Genetic Variants

Gene:LDLRAP1
Variant:p.L50F
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LDLRAP1

NM_015627.3:p.L50F

Associated Papers

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Futema M et al.

Journal of Medical Genetics, 2012

23054246 (PubMed )
Supplement: jmedgenet-2012-101189-s1.pdf
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