Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.I28V
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HP

NM_005143.5:p.I28V

Associated Papers

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Crow YJ et al.

American Journal of Medical Genetics. Part A, 2021

Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.

Lesage S et al.

Journal of Medical Genetics, 2008

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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."