Varaico: Literature-Extracted Genetic Variants

Gene:RRH
Variant:p.R302Q
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RRH

NM_006583.5:p.R302Q

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLRBS7_het

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

Babkina N et al.

European Journal of Medical Genetics, 2016

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336
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