Varaico: Literature-Extracted Genetic Variants

Gene:LMBR1
Variant:p.L108S
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LMBR1

NM_022458.4:p.L108S

Associated Papers

Genetics of congenital anomalies of the hand.

Kyriazis Z et al.

World Journal of Orthopedics, 2022

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.

Wieczorek D et al.

Human Mutation, 2010

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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."