Varaico: Literature-Extracted Genetic Variants

Gene:WNT1
Variant:p.V229_R230delFs
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WNT1

NM_005430.4:p.V229_R230delFs

Associated Papers

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.

Nampoothiri S et al.

American Journal of Medical Genetics. Part A, 2019

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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."