Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.Q194Q
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RET

NM_020975.6:p.Q194Q

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 › 341.162

Splice mutations in the p53 gene: case report and review of the literature.

Holmila R et al.

Human Mutation, 2003

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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."