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WES data and microarray analysis.

Published in Figshare • Nov 5, 2020
NobleIDNI1P93W37R60S21
Authors:
Tanja Mederer (9606184)
,
Stefanie Schmitteckert (9606187)
,
Julia Volz (8317500)

Abstract

<p>(A) Whole exome sequencing (WES) of two sporadic L-HSCR cases in a trio design was followed by variant calling to identify putative HSCR candidate genes. After filtering for respective mutation types, 11 candidate genes remained for patient I and 14 for patient II. (B) For expression validation o...

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