Varaico: Literature-Extracted Genetic Variants

Gene:PEX7
Variant:p.W75R
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PEX7

NM_000288.4:p.W75R

Associated Papers

The type-2 peroxisomal targeting signal.

Kunze M

Biochimica Et Biophysica Acta. Molecular Cell Research, 2020

Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1.

Mohamadynejad P et al.

Gene, 2013

C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I.

Salamian A et al.

Annals of Clinical and Laboratory Science, 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."