Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.R126K
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PQBP1

NM_001032382.2:p.R126K

Associated Papers

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.

McSherry M et al.

Plos One, 2018

30500859 (PubMed )
Supplement: pone.0208324.s002.xlsx › Sheet1
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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."