Varaico: Literature-Extracted Genetic Variants

Gene:PFKM
Variant:p.P668delFs
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PFKM

NM_000289.6:p.P668delFs

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Polyglucosan storage myopathies.

Hedberg-Oldfors C et al.

Molecular Aspects of Medicine, 2015

First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.

Vives-Corrons JL et al.

Frontiers in Physiology, 2013

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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."