Varaico: Literature-Extracted Genetic Variants

Gene:CLSTN3
Variant:p.R876C
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CLSTN3

NM_014718.4:p.R876C

Associated Papers

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.

Köllges R et al.

Biomolecules, 2023

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Audain E et al.

Plos Genetics, 2021

34324492 (PubMed )
Supplement: pgen.1009679.s019.xlsx › Sheet_B

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA et al.

Nature Genetics, 2017

28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
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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."