Varaico: Literature-Extracted Genetic Variants

Gene:EXD3
Variant:p.R243C
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EXD3

NM_017820.5:p.R243C

Associated Papers

Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss.

Kang M et al.

Cells, 2023

37759551 (PubMed )
Supplement: cells-12-02328-s001.zip › cells-2551147-supplementary.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."