Varaico: Literature-Extracted Genetic Variants

Gene:ACSL4
Variant:p.R529H
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ACSL4

NM_001318510.2:p.R529H

Associated Papers

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

Schobers G et al.

Genome Medicine, 2022

35710456 (PubMed )
Supplement: 13073_2022_1069_MOESM1_ESM.xlsx › Table_S1

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.

Vissers LELM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28333917 (PubMed )
Supplement: gim20171x1.zip › Vissers_GiM-D-16-00442__Supplementary_Table_4.xlsx › Suppl_Table_4
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