Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A13
Variant:p.D228N
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SLC39A13

NM_001128225.3:p.D228N

Associated Papers

A case of Ehlers-Danlos syndrome presenting as short stature: a novel mutation in SLC39A13 causing spondylodysplastic Ehlers-Danlos syndrome.

Agrawal P et al.

Oxford Medical Case Reports, 2023

De novo mutations from sporadic schizophrenia cases highlight important signaling genes in an independent sample.

Kranz TM et al.

Schizophrenia Research, 2015

[Ehlers-Danlos syndrome. Case reports].

Berni M et al.

La Clinica Pediatrica, 1968

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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."