Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC9
Variant:p.P570insFs
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TRAPPC9

NM_001160372.4:p.P570insFs

Associated Papers

Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.

Asif M et al.

Genes, 2022

36672789 (PubMed )
Supplement: genes-14-00048-s001.zip › genes-2033021-supplementary › Supplementary_files › V2_Sppplemantary_Table_S2_01.12.2022.xlsx › Sheet1

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.

Alvarez-Mora MI et al.

Genes, 2021

[Diagnosis of a case with mental retardation due to novel compound heterozygous variants of TRAPPC9 gene].

Bai Z et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

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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."