Improve Research Reproducibility A Bio-protocol resource
- Home
- Protocols
-
Request a Protocol
Ask a
question
Favorite
Exome sequencing (ES) and genome sequencing (GS) with analysis were carried out by two independent groups with a shared heterozygous c.1267C>T (p.Arg423∗) variant in SLC37A4 identified in all affected individuals. Sanger sequencing of all seven affected individuals and unaffected family members was used to confirm presence of the variant and to assess segregation. Primers to amplify exon 10 of SLC37A4 are available upon request.
Copyright and License information: ©2021 American Society of Human Genetics.
Do you have any questions about this protocol?
Post your question to gather feedback from the community. We will also invite the authors of this article to respond.
Post a Question0 Q&A
