Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Precision Health Database


Precision Health Database|Search|PHGKB

Rare Diseases

Last data update: Sep 21, 2023. (Total: 61628 Documents since 2012)
   dataset      
Filtered By:

Previous    

Records 1 - 3 (of 3 Records)

Query Trace: Microcephaly[original query]>>Evidence Synthesis [Product Type]
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
Tahira Batool et al. Journal of human genetics 2023
CLINGEN Actionability Report for Phenylketonuria (PKU) - PAH
ClinGen Actionability Working Group
Updates in the genetic evaluation of the child with global developmental delay or intellectual disability.
TOP