Varaico: Literature-Extracted Genetic Variants

Gene:HR
Variant:p.L171L
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HR

NM_005144.5:p.L171L

Associated Papers

Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis.

Heng AHS et al.

Bmc Medical Genomics, 2021

[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated].

van Maldegem BT et al.

Nederlands Tijdschrift Voor Geneeskunde, 2008

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

van Maldegem BT et al.

Jama, 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."