Varaico: Literature-Extracted Genetic Variants

Gene:LILRB2
Variant:p.E239insFs
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LILRB2

NM_001080978.4:p.E239insFs

Associated Papers

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Milanowski LM et al.

International Journal of Molecular Sciences, 2022

35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S1.xlsx › Heterozygotes

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30377383 (PubMed )
Supplement: 41436_2018_345_MOESM1_ESM.docx
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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."