Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.K617Fs
Back to variants list

POMGNT1

NM_017739.4:p.K617Fs

Associated Papers

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Reid ES et al.

Brain : a Journal of Neurology, 2016

27604308 (PubMed )
Supplement: aww221_supplementary_data.zip › brain-2016-00692-File008.pdf
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."