Varaico: Literature-Extracted Genetic Variants

Gene:SLF2
Variant:p.A17delFs
Back to variants list

SLF2

NM_018121.4:p.A17delFs

Associated Papers

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.

Morava E et al.

American Journal of Human Genetics, 2021

33979636 (PubMed )
Supplement: mmc2.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."