Varaico: Literature-Extracted Genetic Variants

Gene:KANK1
Variant:p.R574T
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KANK1

NM_015158.5:p.R574T

Associated Papers

Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome.

Chen N et al.

Journal of Medical Genetics, 2026

41233206 (PubMed )
Supplement: jmg-63-2-s002.xlsx › Supplementary_Table_10

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
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