Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I1
Variant:p.Q631*
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DYNC2I1

NM_018051.5:p.Q631*

Associated Papers

Structure and tethering mechanism of dynein-2 intermediate chains in intraflagellar transport.

Mukhopadhyay AG et al.

The Embo Journal, 2024

38454149 (PubMed )
Supplement: 44318_2024_60_MOESM7_ESM.pdf

WDR60-mediated dynein-2 loading into cilia powers retrograde IFT and transition zone crossing.

De-Castro ARG et al.

The Journal of Cell Biology, 2022

Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.

Kakar N et al.

American Journal of Medical Genetics. Part A, 2018

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

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.

McInerney-Leo AM et al.

Clinical Genetics, 2015

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

McInerney-Leo AM 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."