Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I2
Variant:p.A22V
Back to variants list

DYNC2I2

NM_052844.4:p.A22V

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

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.

Walczak-Sztulpa J et al.

Frontiers in Genetics, 2022

35873489 (PubMed )
Supplement: DataSheet1.docx

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

Solaguren-Beascoa M et al.

Clinical Genetics, 2021

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients.

Aguiar TFM et al.

Frontiers in Oncology, 2020

32432034 (PubMed )
Supplement: Table_6.XLSX › HB46
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."