Varaico: Literature-Extracted Genetic Variants

Gene:LRRK1
Variant:p.A1991insFs
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LRRK1

NM_024652.6:p.A1991insFs

Associated Papers

A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia.

Miryounesi M et al.

Annals of Human Genetics, 2020

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

Guo L et al.

Journal of Human Genetics, 2017

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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."