Varaico: Literature-Extracted Genetic Variants

Gene:SP7
Variant:p.Y305H
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SP7

NM_001173467.3:p.Y305H

Associated Papers

Long-term follow-up of severe autosomal recessive SP7-related bone disorder.

Gauthier LW et al.

Bone, 2024

A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix.

Hendrickx G et al.

Bone, 2023

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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."