Varaico: Literature-Extracted Genetic Variants

Gene:DNAJA2
Variant:p.Q72*
Back to variants list

DNAJA2

NM_005880.4:p.Q72*

Associated Papers

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.

van Spronsen FJ et al.

Journal of Medical Genetics, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."