Varaico: Literature-Extracted Genetic Variants

Gene:ARID5A
Variant:p.R55L
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ARID5A

NM_212481.3:p.R55L

Associated Papers

Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.

Szoszkiewicz A et al.

Orphanet Journal of Rare Diseases, 2024

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.

Dworschak GC et al.

Orphanet Journal of Rare Diseases, 2021

Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios.

Holm I et al.

Gene, 2017

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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."