Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.L353insFs
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MAMLD1

NM_005491.5:p.L353insFs

Associated Papers

RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.

Li S et al.

Acta Ophthalmologica, 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."