Varaico: Literature-Extracted Genetic Variants

Gene:DIXDC1
Variant:p.Q204R
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DIXDC1

NM_001037954.4:p.Q204R

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 › HLMS03_het

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.

Spencer S et al.

The Journal of Experimental Medicine, 2019

31235509 (PubMed )
Supplement: JEM_20190344_sm.pdf
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