Varaico: Literature-Extracted Genetic Variants

Gene:ZFPM2
Variant:p.T843A
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ZFPM2

NM_012082.4:p.T843A

Associated Papers

Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

Longoni M et al.

Clinical Genetics, 2015

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients.

Bleyl SB et al.

European Journal of Human Genetics : Ejhg, 2007

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations.

Brady PD et al.

European Journal of Medical Genetics, 0

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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."