Varaico: Literature-Extracted Genetic Variants

Gene:INPP5K
Variant:p.R166Q
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INPP5K

NM_016532.4:p.R166Q

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 › SPK14_het

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP
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