Varaico: Literature-Extracted Genetic Variants

Gene:ROR2
Variant:p.R184C
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ROR2

NM_004560.4:p.R184C

Associated Papers

Structure and function of the ROR2 cysteine-rich domain in vertebrate noncanonical WNT5A signaling.

Griffiths SC et al.

Elife, 2024

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.

Milhem RM et al.

Molecular Medicine (cambridge, Mass.), 2019

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

Aglan M et al.

American Journal of Medical Genetics. Part A, 2015

Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome.

Tamhankar PM et al.

Journal of Clinical Research in Pediatric Endocrinology, 2014

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.

Mehawej C et al.

European Journal of Medical Genetics, 2012

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

Ben-Shachar S et al.

Clinical Genetics, 2009

Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.

Ali BR et al.

Human Genetics, 2007

ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.

Chen Y et al.

Human Molecular Genetics, 2005

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.

Tufan F et al.

American Journal of Medical Genetics. Part A, 2005

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.

Afzal AR et al.

Human Mutation, 2003

Expression and function of the Ror-family receptor tyrosine kinases during development: lessons from genetic analyses of nematodes, mice, and humans.

Yoda A et al.

Journal of Receptor and Signal Transduction Research, 2003

Robinow syndrome.

Patton MA et al.

Journal of Medical Genetics, 2002

The Ror receptor tyrosine kinase family.

Forrester WC

Cellular and Molecular Life Sciences : Cmls, 2002

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

Schwabe GC et al.

American Journal of Human Genetics, 2000

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

Afzal AR et al.

Nature Genetics, 2000

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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."