Varaico: Literature-Extracted Genetic Variants

Gene:CR1
Variant:p.L2437P
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CR1

NM_000651.6:p.L2437P

Associated Papers

Guam ALS-PDC is a distinct double-prion disorder featuring both tau and Aβ prions.

Condello C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36952379 (PubMed )
Supplement: pnas.2220984120.sapp.pdf

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

Chow YP et al.

Orphanet Journal of Rare Diseases, 2017

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