Varaico: Literature-Extracted Genetic Variants

Gene:PUS7
Variant:p.T292_I298del0
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PUS7

NM_019042.5:p.T292_I298del0

Associated Papers

Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly.

Naseer MI et al.

Saudi Journal of Biological Sciences, 2020

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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."