Varaico: Literature-Extracted Genetic Variants

Gene:METTL5
Variant:p.E181Splc
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METTL5

NM_014168.4:p.E181Splc

Associated Papers

Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.

Torun D et al.

The Turkish Journal of Pediatrics, 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."