Varaico: Literature-Extracted Genetic Variants

Gene:ADPRH
Variant:p.H144_H145insFs
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ADPRH

NM_001125.4:p.H144_H145insFs

Associated Papers

Autosomal recessive hypercholesterolemia.

Soutar AK et al.

Seminars in Vascular Medicine, 2004

Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH).

Fellin R et al.

Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2003

Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred.

Spina R et al.

Journal of Clinical Lipidology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."