Varaico: Literature-Extracted Genetic Variants

Gene:ERAP1
Variant:p.R538T
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ERAP1

NM_001040458.3:p.R538T

Associated Papers

A novel mutation in the UBAP1 gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation.

Li P et al.

Frontiers in Genetics, 2022

35928447 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_TableS1

Germline mutations causing familial lung cancer.

Tomoshige K et al.

Journal of Human Genetics, 2015

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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."