Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.L183F
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NMNAT1

NM_022787.4:p.L183F

Associated Papers

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families.

Tehreem R et al.

Genes, 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."