TheJacksonLaboratory / LIRICAL

LIkelihood Ratio Interpretation of Clinical AbnormaLities
https://thejacksonlaboratory.github.io/LIRICAL/stable
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Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome. #431

Closed pnrobinson closed 5 years ago

pnrobinson commented 5 years ago

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687635/

pnrobinson commented 5 years ago

done