Varaico: Literature-Extracted Genetic Variants

Gene:PFDN2
Variant:p.N138S
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PFDN2

NM_012394.4:p.N138S

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1635.580
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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."