Varaico: Literature-Extracted Genetic Variants

Gene:NCAPD2
Variant:p.D1374Splc
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NCAPD2

NM_014865.4:p.D1374Splc

Associated Papers

A novel homozygous splice-site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report.

Lin Y et al.

Clinical Genetics, 2019

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.

Martin CA et al.

Genes & Development, 2016

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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."