Varaico: Literature-Extracted Genetic Variants

Gene:METTL23
Variant:p.L157delFs
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METTL23

NM_001080510.5:p.L157delFs

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

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

Further delineation of METTL23-associated intellectual disability.

Almannai M et al.

American Journal of Medical Genetics. Part A, 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."