Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL2
Variant:p.G168S
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ADAMTSL2

NM_014694.4:p.G168S

Associated Papers

Prenatal Diagnosis of Geleophysic Dysplasia Type 1 in a Family Presented With Recurrent Increased Nuchal Translucency and Hydrocephalus.

Liang XL et al.

Prenatal Diagnosis, 2026

Prenatal diagnosis of geleophysic dysplasia with ADAMTSL2 mutations.

Jiang YT et al.

Taiwanese Journal of Obstetrics & Gynecology, 2025

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Batkovskyte D et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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."