RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.

Autor: Marshall, Aren E., Lemire, Gabrielle, Liang, Yijing, Davila, Jorge, Couse, Madeline, Boycott, Kym M., Kernohan, Kristin D.
Zdroj: American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-5, 5p
Databáze: Complementary Index
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