Varaico: Literature-Extracted Genetic Variants

Gene:AMPD1
Variant:p.V183Splc
Back to variants list

AMPD1

NM_000036.3:p.V183Splc

Associated Papers

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).

Musumeci O et al.

Neuromuscular Disorders : Nmd, 2012

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."