Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL2
Variant:p.G354delFs
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ADAMTSL2

NM_014694.4:p.G354delFs

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

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