Varaico: Literature-Extracted Genetic Variants

Gene:PXDNL
Variant:p.R1225Q
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PXDNL

NM_144651.5:p.R1225Q

Associated Papers

Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma.

Seki M et al.

Nature Communications, 2015

26138366 (PubMed )
Supplement: ncomms8557-s3.xlsx › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 762.297
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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."