Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I2
Variant:p.R182W
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DYNC2I2

NM_052844.4:p.R182W

Associated Papers

Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study.

Gao Z et al.

American Journal of Obstetrics and Gynecology, 2026

Comparative analysis of the mutational landscape and evolutionary patterns of pancreatic ductal adenocarcinoma metastases in the liver or peritoneum.

Yao G et al.

Heliyon, 2024

39170579 (PubMed )
Supplement: mmc2.xlsx › Sheet1

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

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP

Molecular autopsy by proxy in preconception counseling.

Ali Alghamdi M et al.

Clinical Genetics, 2021

Corrigendum to "Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome" [Taiwanese Journal of Obstetrics & Gynecology 56 (2017) 857-862].

You SH et al.

Taiwanese Journal of Obstetrics & Gynecology, 2018

Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome.

You SH et al.

Taiwanese Journal of Obstetrics & Gynecology, 2017

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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."