Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I2
Variant:p.Q158*
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DYNC2I2

NM_052844.4:p.Q158*

Associated Papers

Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.

Jiali C et al.

Frontiers in Genetics, 2024

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

Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.

Globa E et al.

Frontiers in Endocrinology, 2022

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

Solaguren-Beascoa M et al.

Clinical Genetics, 2021

Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function.

Vuolo L et al.

Elife, 2018

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."