Varaico: Literature-Extracted Genetic Variants

Gene:PGAP1
Variant:p.H801Y
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PGAP1

NM_024989.4:p.H801Y

Associated Papers

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.

Murakami Y et al.

Plos Genetics, 2014

24784135 (PubMed )
Supplement: pgen.1004320.s002.pdf
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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."