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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NKX2-5

Variant:p.E112Splc

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NKX2-5

NM_004387.4:p.E112Splc

hg38:chr5:173233210 C>T

Associated Papers

A Novel Splicing Mutation c.335-1 G > A in the Cardiac Transcription Factor NKX2-5 Leads to Familial Atrial Septal Defect Through miR-19 and PYK2.

Jia L et al.

Stem Cell Reviews and Reports, 2022

35778654 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."

Varaico: Literature-Extracted Genetic Variants

Associated Papers

A Novel Splicing Mutation c.335-1 G &gt; A in the Cardiac Transcription Factor NKX2-5 Leads to Familial Atrial Septal Defect Through miR-19 and PYK2.

A Novel Splicing Mutation c.335-1 G > A in the Cardiac Transcription Factor NKX2-5 Leads to Familial Atrial Septal Defect Through miR-19 and PYK2.