Varaico: Literature-Extracted Genetic Variants

Gene:ROR2
Variant:p.C182Y
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ROR2

NM_004560.4:p.C182Y

Associated Papers

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

Griffiths SC et al.

Elife, 2024

Genetics of congenital anomalies of the hand.

Kyriazis Z et al.

World Journal of Orthopedics, 2022

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

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

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

Afzal AR et al.

Human Mutation, 2003

Robinow syndrome.

Patton MA et al.

Journal of Medical Genetics, 2002

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

van Bokhoven H 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."