Title : 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.

Pub. Date : 2020 Nov

PMID : 33100873






1 Functional Relationships(s)
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1 Different bioinformatics analysis done for WES data and we identified two novel mutations one as frameshift mutation c.606_607delGA, p.Ser282CysfsTer9 in the PUS7 gene and splice acceptor variants c.1767-1 G > A in the AASS gene has been reported. ser282cysfster9 aminoadipate-semialdehyde synthase Homo sapiens