Varaico: Literature-Extracted Genetic Variants

Gene:LRP10
Variant:p.R48W
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LRP10

NM_014045.5:p.R48W

Associated Papers

Genetic analysis of the LRP10 gene in Chinese patients with Parkinson's disease.

Song N et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2

Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.

Mikhael S et al.

Human Genetics, 2021

A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.

Mohamadian M et al.

Journal of Clinical Laboratory Analysis, 2020

33079427 (PubMed )
Supplement: JCLA-34-e23484-s001.xlsx › Sheet2
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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."