Varaico: Literature-Extracted Genetic Variants

Gene:TTC21A
Variant:p.E397K
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TTC21A

NM_001366900.1:p.E397K

Associated Papers

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

COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage.

Tabbarah S et al.

Scientific Reports, 2020

33277529 (PubMed )
Supplement: 41598_2020_77394_MOESM1_ESM.pdf
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