Biallelic Loss of Function Variant in the Unfolded Protein Response Gene PDIA6 is Associated with Asphyxiating Thoracic Dystrophy and Neonatal‐Onset Diabetes

标题
Biallelic Loss of Function Variant in the Unfolded Protein Response Gene PDIA6 is Associated with Asphyxiating Thoracic Dystrophy and Neonatal‐Onset Diabetes
作者
关键词
-
出版物
CLINICAL GENETICS
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2021-01-26
DOI
10.1111/cge.13930

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