Varaico: Literature-Extracted Genetic Variants

Gene:NUP214
Variant:p.K15_D16Splc
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NUP214

NM_005085.4:p.K15_D16Splc

Associated Papers

The First Case Report of a Homozygous Consensus Acceptor Splice Variant in the NUP214 Gene Associated With Fetal Hydrops and Arthrogryposis Multiplex.

Tamhankar V et al.

Cureus, 2024

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