Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.R293H
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TBC1D24

NM_001199107.2:p.R293H

Associated Papers

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

Exome Pool-Seq in neurodevelopmental disorders.

Popp B et al.

European Journal of Human Genetics : Ejhg, 2017

29158550 (PubMed )
Supplement: 41431_2017_22_MOESM6_ESM.xlsx › clinsig4or5

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

Rehman AU et al.

American Journal of Human Genetics, 2014

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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