Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PGM1

Variant:p.I40fs

Back to variants list

PGM1

NM_002633.3:p.I40fs

hg38:chr1:63593606 ATC>N

Associated Papers

Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene.

Ding Y et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

29858906 (PubMed )

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."