Varaico: Literature-Extracted Genetic Variants

Gene:LENG8
Variant:p.Q160*
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LENG8

NM_052925.4:p.Q160*

Associated Papers

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.

Hytönen MK et al.

Human Genetics, 2021

33835239 (PubMed )
Supplement: 439_2021_2279_MOESM5_ESM.xlsx › PRT_epil_1_1_Recessive_0_0_0_20
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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."