Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Microcephaly[original query]>>Evidence Synthesis [Product Type] |
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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. |