Varaico: Literature-Extracted Genetic Variants

Gene:CBX2
Variant:p.R262Q
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CBX2

NM_005189.3:p.R262Q

Associated Papers

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.

Jiali C et al.

Frontiers in Genetics, 2024

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).

Hughes LA et al.

Endocrine Connections, 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."