Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN11
Variant:p.G68D
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TSPAN11

NM_001370302.1:p.G68D

Associated Papers

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

Ben-Mahmoud A et al.

Scientific Reports, 2023

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

Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

Quaynor SD et al.

Molecular and Cellular Endocrinology, 2016

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