Varaico: Literature-Extracted Genetic Variants

Gene:YPEL3
Variant:p.V54fs
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YPEL3

NM_001145524.2:p.V54fs

Associated Papers

Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.

Mok JW et al.

Genome Research, 2025

40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1

Frameshift mutations of YPEL3 alter the sensory circuit function in Drosophila.

Kim JH et al.

Disease Models & Mechanisms, 2020

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.

Blanco-Sánchez B et al.

Plos Genetics, 2020

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