Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1I2
Variant:p.A203Splc
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DYNC1I2

NM_001378.3:p.A203Splc

Associated Papers

The genetic cause of neurodevelopmental disorders in 30 consanguineous families.

Paracha SA et al.

Frontiers in Medicine, 2024

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

Ansar M et al.

American Journal of Human Genetics, 2019

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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."