L12- BIOINFORMATICS Flashcards
1
Q
Online Mendelian Inheritance in ManOMIM
A
Allows us to find the genes involved
Gives a comprehensive clinical synopsis
Gives the mode of inheritance
2
Q
Cerebellar hypoplasia
A
Perform tests: Array CGH
Creatinine kinase
Brain MRI
Caused by Frameshift variant in CHMP1A
