Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC2B
Variant:p.F83S
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TRAPPC2B

NM_001355204.2:p.F83S

Associated Papers

A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.

Xia XY et al.

Genetics and Molecular Research : Gmr, 2014

SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.

Jeyabalan J et al.

Plos One, 2010

Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda.

Choi MY et al.

The Biochemical Journal, 2009

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