Varaico: Literature-Extracted Genetic Variants

Gene:DNHD1
Variant:p.K1617R
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DNHD1

NM_144666.3:p.K1617R

Associated Papers

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.

Hansen L et al.

American Journal of Human Genetics, 2013

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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."