Varaico: Literature-Extracted Genetic Variants

Gene:ACSL4
Variant:p.P334_E335Splc
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ACSL4

NM_001318510.2:p.P334_E335Splc

Associated Papers

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.

Longo I et al.

Journal of Medical Genetics, 2003

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.

Meloni I et al.

Nature Genetics, 2002

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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."