Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.R57C
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TBC1D24

NM_001199107.2:p.R57C

Associated Papers

Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.

Aschner A et al.

Frontiers in Neurology, 2024

Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?

Clabout T et al.

Genes, 2022

Searching for the Molecular Basis of Partial Deafness.

Oziębło D et al.

International Journal of Molecular Sciences, 2022

35682719 (PubMed )
Supplement: ijms-23-06029-s001.zip › TableS2.xlsx › Arkusz

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.

Oliver GR et al.

Plos One, 2019

31577830 (PubMed )
Supplement: pone.0223337.s002.xlsx › SuppTable2_Variants_of_interest

The genetic basis of DOORS syndrome: an exome-sequencing study.

Campeau PM et al.

The Lancet. Neurology, 2014

24291220 (PubMed )
Supplement: mmc1.pdf
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