Varaico: Literature-Extracted Genetic Variants

Gene:CACNB4
Variant:p.Q204fs
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CACNB4

NM_000726.5:p.Q204fs

Associated Papers

Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder.

Morrison K et al.

American Journal of Medical Genetics. Part A, 2024

Mitochondrial dysfunction associated with TANGO2 deficiency.

Heiman P et al.

Scientific Reports, 2022

35197517 (PubMed )
Supplement: 41598_2022_7076_MOESM1_ESM.pdf
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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."