Varaico: Literature-Extracted Genetic Variants

Gene:METTL5
Variant:p.D121G
Back to variants list

METTL5

NM_014168.4:p.D121G

Associated Papers

Functional Interpretation of a Novel Homozygous METTL5 Variant Associated with ADHD and Neurodevelopmental Abnormalities: A Case Report and Literature Review.

Hashem S et al.

Genes, 2025

Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.

Pinc Z et al.

Journal of Clinical Immunology, 2025

41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final

Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family.

Zhou X et al.

Journal of Human Genetics, 2025

Molecular Genetic Architecture of Morbid Obesity in Russian Children.

Minniakhmetov IR et al.

Biomedicines, 2025

A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review.

Shakarami F et al.

Journal of Genetics, 2023

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."