Varaico: Literature-Extracted Genetic Variants

Gene:METTL23
Variant:p.Q133*
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METTL23

NM_001080510.5:p.Q133*

Associated Papers

Identification of a novel METTL23 gene variant in a patient with an intellectual development disorder: a literature review and case report.

Zha J et al.

Frontiers in Pediatrics, 2024

Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.

Khan A et al.

Genes, 2020

Further delineation of METTL23-associated intellectual disability.

Almannai M et al.

American Journal of Medical Genetics. Part A, 2020

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

Harripaul R et al.

Molecular Psychiatry, 2018

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.

Bernkopf M et al.

Human Molecular Genetics, 2014

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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."