Varaico: Literature-Extracted Genetic Variants

Gene:LMBR1
Variant:p.G135A
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LMBR1

NM_022458.4:p.G135A

Associated Papers

Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis.

Al-Qattan MM

Biomed Research International, 2018

Advances in the molecular genetics of non-syndromic polydactyly.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers.

Norbnop P et al.

Journal of Human Genetics, 2014

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.

Girisha KM et al.

American Journal of Medical Genetics. Part A, 2014

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."