Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.L463P
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IFNGR1

NM_000416.3:p.L463P

Associated Papers

A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.

Pironti E et al.

Journal of Neurogenetics, 2018

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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."