User: goyal.shiwali

goyal.shiwali • 0

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Posts by goyal.shiwali

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Recurrent mutation query

... I am having a recurrent mutation in an autosomal recessive family. I want to publish my data with additional bioinformatics details which earlier report has not published. Is it a good idea to publish it in a journal or as a book chapter???? Thanks in advance ...

gene sequencing written 1 day ago by goyal.shiwali • 0 • updated 1 day ago by finswimmer ♦ 9.8k

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Splice donor site mutation

... I am having a missense mutation at the last base of exon i.e. exon 13 of a gene having 15 coding exons in total. The observed substitution was also confirmed by sequencing mRNA, which is being isolated from whole blood followed by cDNA preparation. In sequencing results it was observed that 77 bases ...

rna-seq written 7 days ago by goyal.shiwali • 0 • updated 7 days ago by RamRS ♦ 20k

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