Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant
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DOI: 10.3389/fped.2022.978598
Abstract: Background to perform a functional analysis of a new NK2 homeobox 1 (NKX2-1) variant (c.85_86del denominated NKX2-1DEL) identified in a family presenting with isolated respiratory disease, in comparison to another frameshift variant (c.254dup denominated NKX2-1DUP)… read more here.
Keywords: frameshift; microscopy; lung; nkx2 ... See more keywords
Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population
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DOI: 10.3390/ijerph19169884
Abstract: (1) Background globe. The etiology of CHDs is complex and involves both genetic and non-genetic factors. Although, significant progress has been made in deciphering the genetic components involved in CHDs, recent reports have revealed that… read more here.
Keywords: ethnic kashmiri; etiology; kashmiri population; nkx2 ... See more keywords