Varaico: Literature-Extracted Genetic Variants

Gene:ADGRD1
Variant:p.A458T
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ADGRD1

NM_198827.5:p.A458T

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133).

Fischer L et al.

Bmc Genomics, 2016

27516204 (PubMed )
Supplement: 12864_2016_2937_MOESM1_ESM.xlsx › inspected_nsSNP

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.

Thal DR et al.

International Journal of Molecular Sciences, 2015

26506339 (PubMed )
Supplement: ijms-16-25050-s001.zip › ijms-101073-Tables_S1_and_S2.xls › Table_S2
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