Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R27
Variant:p.I112M
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PPP1R27

NM_001007533.4:p.I112M

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 › 1696.600

SDS, a structural disruption score for assessment of missense variant deleteriousness.

Preeprem T et al.

Frontiers in Genetics, 2014

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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."