Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC2
Variant:p.K31*
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TRAPPC2

NM_001011658.4:p.K31*

Associated Papers

Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda.

Lou G et al.

Frontiers in Genetics, 2023

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