Varaico: Literature-Extracted Genetic Variants

Gene:PTPRH
Variant:p.G268delFs
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PTPRH

NM_002842.5:p.G268delFs

Associated Papers

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.

Hulková H et al.

Human Molecular Genetics, 2001

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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."