Varaico: Literature-Extracted Genetic Variants

Gene:YIPF5
Variant:p.P52_P53del1
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YIPF5

NM_030799.9:p.P52_P53del1

Associated Papers

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

De Franco E et al.

The Journal of Clinical Investigation, 2020

33164986 (PubMed )
Supplement: jci-130-141455-s463.pdf
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