Varaico: Literature-Extracted Genetic Variants

Gene:TDRD7
Variant:p.E3*
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TDRD7

NM_014290.3:p.E3*

Associated Papers

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Buchert R et al.

American Journal of Human Genetics, 2025

39824192 (PubMed )
Supplement: mmc3.pdf
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