Varaico: Literature-Extracted Genetic Variants

Gene:YRDC
Variant:p.I221T
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YRDC

NM_024640.4:p.I221T

Associated Papers

The Biology of tRNA t6A Modification and Hypermodifications-Biogenesis and Disease Relevance.

Zhang W et al.

Journal of Molecular Biology, 2025

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

Biallelic variants in YRDC cause a developmental disorder with progeroid features.

Schmidt J et al.

Human Genetics, 2021

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