Varaico: Literature-Extracted Genetic Variants

Gene:METAP1
Variant:p.R289*
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METAP1

NM_015143.3:p.R289*

Associated Papers

METAP1 mutation is a novel candidate for autosomal recessive intellectual disability.

Caglayan AO et al.

Journal of Human Genetics, 2021

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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."