Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.A448T
Back to variants list

H6PD

NM_004285.4:p.A448T

Associated Papers

Mutations in GCK May Lead to MODY2 by Reducing Glycogen Synthesis.

Li Z et al.

Advanced Biology, 2022

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L et al.

Scientific Reports, 2017

28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants

Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome.

Qin K et al.

Steroids, 2011

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."