Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.E54insFs
Back to variants list

PMM2

NM_000303.3:p.E54insFs

Associated Papers

In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report.

Doroftei B et al.

Genes, 2020

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."