Varaico: Literature-Extracted Genetic Variants

Gene:YIPF5
Variant:p.K106del1
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YIPF5

NM_030799.9:p.K106del1

Associated Papers

The microcephaly-associated protein YIPF5 differentially regulates ER export.

Bruno F et al.

Iscience, 2026

Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.

Di Pasquale G et al.

Clinical Genetics, 2025

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.

De Franco E et al.

The Journal of Clinical Investigation, 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."