Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I2
Variant:p.R447W
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DYNC2I2

NM_052844.4:p.R447W

Associated Papers

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2.

Shak C et al.

Journal of Cell Science, 2023

Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.

Strong A et al.

Scientific Reports, 2023

36653407 (PubMed )
Supplement: 41598_2023_27641_MOESM2_ESM.xlsx › Sheet1

WDR34, a candidate gene for non-syndromic rod-cone dystrophy.

Solaguren-Beascoa M et al.

Clinical Genetics, 2021

Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing.

Chen LS et al.

Genetics and Molecular Research : Gmr, 2016

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Huber C et al.

American Journal of Human Genetics, 2013

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

Schmidts M et al.

American Journal of Human Genetics, 2013

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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."