Varaico: Literature-Extracted Genetic Variants

Gene:XPNPEP3
Variant:p.K323_D324Splc
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XPNPEP3

NM_022098.4:p.K323_D324Splc

Associated Papers

A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Li Q et al.

Bmc Medical Genomics, 2022

35864542 (PubMed )
Supplement: 12920_2022_1315_MOESM2_ESM.xlsx › RawData
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