ArticleAmerican journal of medical genetics. Part A2022

Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.

Esra Yıldız Bölükbaşı et al.PubMed ↗Full text ↗Publisher ↗

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