Varaico: Literature-Extracted Genetic Variants

Gene:PIGP
Variant:p.Q128delFs
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PIGP

NM_153681.2:p.Q128delFs

Associated Papers

Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.

Martín-Grau C et al.

Clinical Genetics, 2023

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations.

Vetro A et al.

Neurology. Genetics, 2020

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

Johnstone DL et al.

Human Molecular Genetics, 2017

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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."