Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.H319Q
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NKX2-5

NM_004387.4:p.H319Q

Associated Papers

A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.

Zhao MF et al.

Dna and Cell Biology, 2024

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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."