Varaico: Literature-Extracted Genetic Variants

Gene:PGM1
Variant:p.R221fs
Back to variants list

PGM1

NM_002633.3:p.R221fs

Associated Papers

[Electrophysiological evidence of impaired neuromuscular junction in a case of phosphoglucomutase 1 deficiency manifesting fluctuating muscle weakness].

Takenaka Y et al.

Rinsho Shinkeigaku = Clinical Neurology, 2020

[Nine cases of debrancher deficiency (glycogen storage disease type III) presenting muscle weakness--study on clinicobiochemical analysis].

Fukuda T et al.

Rinsho Shinkeigaku = Clinical Neurology, 1996

[A case of adult onset phosphoglucomutase deficiency].

Nakashima H et al.

Rinsho Shinkeigaku = Clinical Neurology, 1992

[Biochemical analysis using biopsied muscle in 72 patients with metabolic myopathies].

Sugie H et al.

Rinsho Shinkeigaku = Clinical Neurology, 1989

[A case of phosphoglucomutase deficiency with decreased muscle and serum carnitine].

Kobayashi J et al.

No to Hattatsu = Brain and Development, 1986

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."