Varaico: Literature-Extracted Genetic Variants

Gene:PCK1
Variant:p.D186N
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PCK1

NM_002591.4:p.D186N

Associated Papers

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.

Duran I et al.

Scientific Reports, 2016

27666822 (PubMed )
Supplement: srep34232-s2.xls › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
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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."