Varaico: Literature-Extracted Genetic Variants

Gene:LRRC32
Variant:p.H465Y
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LRRC32

NM_001128922.2:p.H465Y

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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