https://mek-signaling.com/inde....x.php/the-aging-prot
Genomic DNA of the client along with her parents was removed and subjected to high-throughput sequencing. The outcome were examined with bioinformatic tools and validated by Sanger sequencing. Results The karyotype regarding the youngster ended up being ascertained as 46,XX. Sequencing outcome indicated that she has held a de novo heterozygous c.1861CT (p.R621X) variation associated with the SYNGAP1 gene. Conclusion The nonsense variation c.1861CT (p.R621X) associated with SYN
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