Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.L253Fs
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NMNAT1

NM_022787.4:p.L253Fs

Associated Papers

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.

Sallum JMF et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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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."