Varaico: Literature-Extracted Genetic Variants

Gene:PPM1F
Variant:p.L223L
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PPM1F

NM_014634.4:p.L223L

Associated Papers

A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.

Mandato C et al.

Orphanet Journal of Rare Diseases, 2021

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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."