Varaico: Literature-Extracted Genetic Variants

Gene:PIGN
Variant:p.E416fs
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PIGN

NM_176787.5:p.E416fs

Associated Papers

Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) - the clinical and molecular summary.

Bukowska-Olech E et al.

European Journal of Medical Genetics, 2023

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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."