Varaico: Literature-Extracted Genetic Variants

Gene:DDR2
Variant:p.L761_G762Splc
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DDR2

NM_006182.4:p.L761_G762Splc

Associated Papers

Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features.

Yilmaz Gulec E et al.

Molecular Syndromology, 2022

Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type.

Gupta N et al.

Journal of Pediatric Genetics, 2019

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.

Ürel-Demir G et al.

Journal of Human Genetics, 2018

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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."