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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NKX3-2

Variant:p.P169_R170delFs

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NKX3-2

NM_001189.4:p.P169_R170delFs

hg38:chr4:13542486 CTG>C

Associated Papers

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.

Simsek-Kiper PO et al.

European Journal of Medical Genetics, 2019

29704686 (PubMed )

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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."