Varaico: Literature-Extracted Genetic Variants

Gene:CBX3
Variant:p.D56Splc
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CBX3

NM_016587.4:p.D56Splc

Associated Papers

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.

Oh RY et al.

Hgg Advances, 2024

38659227 (PubMed )
Supplement: mmc2.xlsx › Table_S2

New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.

Bruno LP et al.

International Journal of Molecular Sciences, 2021

34948243 (PubMed )
Supplement: ijms-22-13439-s001.zip › cartella_senza_titolo › Table_S3_Molecular_information_of_the_variants___2_.xlsx › Foglio1
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