Varaico: Literature-Extracted Genetic Variants

Gene:RNF135
Variant:p.V339fs
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RNF135

NM_032322.4:p.V339fs

Associated Papers

Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot.

Pan Y et al.

Journal of Thoracic Disease, 2022

Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

Zhou WZ et al.

Human Mutation, 2019

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.

Douglas J et al.

Nature Genetics, 2007

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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."