Varaico: Literature-Extracted Genetic Variants

Gene:PGAM5
Variant:p.R118H
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PGAM5

NM_001170543.2:p.R118H

Associated Papers

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.

Mouden C et al.

Plos One, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 794.308
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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."