Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2H1
Variant:p.D2184V
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DYNC2H1

NM_001377.3:p.D2184V

Associated Papers

Whole exome sequencing identifies a novel mutation in Annexin A4 that is associated with recurrent spontaneous abortion.

Ye Q et al.

Frontiers in Medicine, 2024

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.

Maksiutenko EM et al.

International Journal of Molecular Sciences, 2023

Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly).

Chen W et al.

Frontiers in Genetics, 2023

Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches.

Quintero-Ronderos P et al.

Reproductive Sciences (thousand Oaks, Calif.), 2020

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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."