Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL2
Variant:p.G354fs
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ADAMTSL2

NM_014694.4:p.G354fs

Associated Papers

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.

Maksiutenko EM et al.

International Journal of Molecular Sciences, 2023

38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1

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

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Byrne AB et al.

Nature Medicine, 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."