Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC9
Variant:p.T511M
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TRAPPC9

NM_001160372.4:p.T511M

Associated Papers

TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins.

Sacher M et al.

Traffic (copenhagen, Denmark), 2019

NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea.

Campbell J et al.

Pediatrics, 2018

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."