Varaico: Literature-Extracted Genetic Variants

Gene:NOP53
Variant:p.R190W
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NOP53

NM_015710.5:p.R190W

Associated Papers

Sacral agenesis: a pilot whole exome sequencing and copy number study.

Porsch RM et al.

Bmc Medical Genetics, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 985.382
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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."