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Publication Details

Results for Khan2024:

Summary

Title	Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder
Authors	Khan, H., Harripaul, R., Mikhailov, A., Herzi, S., Bowers, S., Ayub, M., Shabbir, M.I., Vincent, J.B.
Technology	WES
Variant source	Table 2
Cohorts	Pakistan
Design	simplex, multiplex
URL	https://dx.doi.org/10.1038/s41598-024-57942-x
Pubmed	38649688
Subject count	8 The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count	16
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	14
stopgain	2

What am I looking at?

Summary: Information from the literature piece (e.g. Author, Publisher, DOI) and the study experimental design (e.g. sample size, source of probands, sequencing technology.) For a full list of sources of variants, be sure to check out the publications page. Documentation and description of our work can be found on the help page.

Breakdown by exonic function: We annotated the variants with an effect prediction using ANNOVAR. The functions are categories of variants, such as frameshift variants (i.e. frameshift_elongation (SO:0001909)), loss/gain of stop codon, SNVs and non-frameshift variants. See the full list of possible annotations for exonic variants in the documentation.