Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.W191*
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ACADM

NM_000016.6:p.W191*

Associated Papers

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.

Jamaleddin T et al.

International Journal of Neonatal Screening, 2025

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Guo Y et al.

Orphanet Journal of Rare Diseases, 2023

37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1

[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].

Tan JQ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016

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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."