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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEX5

Variant:p.Q195*

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PEX5

NM_001351132.2:p.Q195*

hg38:chr12:7201782 C>T

Associated Papers

Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns.

Hall PL et al.

International Journal of Neonatal Screening, 2020

33239602 (PubMed )

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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."