Varaico: Literature-Extracted Genetic Variants

Gene:MESD
Variant:p.N201_K202delFs
Back to variants list

MESD

NM_015154.3:p.N201_K202delFs

Associated Papers

Long-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.

Uludağ Alkaya D et al.

American Journal of Medical Genetics. Part A, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."