Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.H327L
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LDLR

NM_000527.5:p.H327L

Associated Papers

Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Mitchell KA et al.

Nature Communications, 2019

31844068 (PubMed )
Supplement: 41467_2019_13732_MOESM8_ESM.xlsx › Sheet1

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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