Varaico: Literature-Extracted Genetic Variants

Gene:TMTC1
Variant:p.A8insFs
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TMTC1

NM_175861.3:p.A8insFs

Associated Papers

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.

Ben-Mahmoud A et al.

Research Square, 2023

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