Varaico: Literature-Extracted Genetic Variants

Gene:VANGL1
Variant:p.K108R
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VANGL1

NM_138959.3:p.K108R

Associated Papers

Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.

Merello E et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 79.65
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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."