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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PQBP1

Variant:p.W75*

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PQBP1

NM_001032382.2:p.W75*

hg38:chrX:48901975 G>A

Associated Papers

Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndrome.

Pucheta-Martinez E et al.

Scientific Reports, 2016

27456546 (PubMed )

Supplement: srep30293-s1.pdf

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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."