Varaico: Literature-Extracted Genetic Variants

Gene:PIGN
Variant:p.K114*
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PIGN

NM_176787.5:p.K114*

Associated Papers

Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).

Jiao X et al.

Orphanet Journal of Rare Diseases, 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."