Varaico: Literature-Extracted Genetic Variants

Gene:SF3B4
Variant:p.P410delFs
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SF3B4

NM_005850.5:p.P410delFs

Associated Papers

SF3B4 Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome.

Ulhaq ZS et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2023

Spliceosomopathies and neurocristopathies: Two sides of the same coin?

Beauchamp MC et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2020

[Nager syndrome associated with tetralogy of Fallot: A frequent association?].

Bellanger C et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2015

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

Petit F et al.

Clinical Genetics, 2014

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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."