Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L516V
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ABCD1

NM_000033.4:p.L516V

Associated Papers

Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).

Wu R et al.

Frontiers in Neurology, 2025

41170324 (PubMed )
Supplement: Data_Sheet_3.XLS › NDD-NPDs
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