Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L391P
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ABCD1

NM_000033.4:p.L391P

Associated Papers

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.

Mederer T et al.

Plos Genetics, 2020

33151932 (PubMed )
Supplement: pgen.1009106.s007.pdf

Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy.

Chiu HC et al.

Pediatric Neurology, 2006

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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."