Varaico: Literature-Extracted Genetic Variants

Gene:P3H2
Variant:p.H87Y
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P3H2

NM_018192.4:p.H87Y

Associated Papers

Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome.

Li M et al.

Frontiers in Genetics, 2022

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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."