Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.H282R
Back to variants list

LIG4

NM_206937.2:p.H282R

Associated Papers

Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome.

Lun MP et al.

The American Journal of Pathology, 2019

Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.

IJspeert H et al.

Human Mutation, 2013

24027040 (PubMed )
Supplement: humu0034-1611-sd1.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."