Varaico: Literature-Extracted Genetic Variants

Gene:METTL5
Variant:p.G75Splc
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METTL5

NM_014168.4:p.G75Splc

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

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

Cortical organoids reveal human-specific roles of METTL5 in neurodevelopment via regulation of CHCHD2.

Turkalj EM et al.

Biorxiv : the Preprint Server for Biology, 2025

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