Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.

Tahira BatoolSaba IrshadMuhammad RiazShahid Mahmood BaigPeter NuernbergMuhammad Sajid Hussain

Published in: Journal of human genetics (2023)

The high possibility of this variant results in nonsense-mediated decay of mRNA, leading to the loss of protein functioning which causes primary microcephaly.

Keyphrases

intellectual disability
zika virus
autism spectrum disorder
binding protein
genome wide
amino acid
small molecule
dna methylation