Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.L438P
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PEX6

NM_000287.4:p.L438P

Associated Papers

Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.

Miller C et al.

Ophthalmic Genetics, 2025

39763302 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_2

Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.

Mares Beltran CF et al.

Genes, 2024

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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."