Varaico: Literature-Extracted Genetic Variants

Gene:PRTG
Variant:p.R928H
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PRTG

NM_173814.6:p.R928H

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 › 1312.477

Integrative data mining highlights candidate genes for monogenic myopathies.

Abath Neto O et al.

Plos One, 2014

25353622 (PubMed )
Supplement: pone.0110888.s004.xlsx › Table_S4
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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."