Varaico: Literature-Extracted Genetic Variants

Gene:ITPA
Variant:p.N173Fs
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ITPA

NM_033453.4:p.N173Fs

Associated Papers

ITPA-associated developmental and epileptic encephalopathy: characteristic neuroradiological features with novel clinical and biochemical findings.

Garg M et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2022

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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."