Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.A380_I384insFs
Back to variants list

PDHA1

NM_000284.4:p.A380_I384insFs

Associated Papers

A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging.

Tamaru S et al.

Journal of Clinical Ultrasound : Jcu, 2012

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."