Varaico: Literature-Extracted Genetic Variants

Gene:PEX19
Variant:p.D118N
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PEX19

NM_002857.4:p.D118N

Associated Papers

Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families.

Alayoubi AM et al.

Annals of Medicine, 2025

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.

Ben-Mahmoud A et al.

Research Square, 2023

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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."