Varaico: Literature-Extracted Genetic Variants

Gene:PDPR
Variant:p.R752H
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PDPR

NM_017990.5:p.R752H

Associated Papers

Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.

Deng Z et al.

Nature Communications, 2023

37402769 (PubMed )
Supplement: 41467_2023_39761_MOESM5_ESM.xlsx › original

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

28222800 (PubMed )
Supplement: 13023_2017_575_MOESM3_ESM.xlsx › Table_S2
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