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Germline PTCH1: C.361_362insalu Alteration Identified by Comprehensive Exome and RNA Sequencing in a Patient with Gorlin Syndrome.

Aaron Y. Mochizuki,Chinmayee B. Nagaraj,Douglas Depoorter,Kathleen M. Schieffer, Sun Young Kim

American Journal of Medical Genetics Part A（2024）

Cited 0|Views15
Key words
Alu insertion,Gorlin syndrome,PTCH1,RNA sequencing,SINE
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