Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP2
Variant:p.A1239Splc
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CNTNAP2

NM_014141.6:p.A1239Splc

Associated Papers

Genetic profiling of synchronous pituitary corticotroph adenomas.

Zhang D et al.

Pituitary, 2025

40544420 (PubMed )
Supplement: 11102_2025_1549_MOESM3_ESM.xlsx › Suppl_Table3

Combined aCGH and Exome Sequencing Analysis Improves Autism Spectrum Disorders Diagnosis: A Case Report.

Ranieri A et al.

Medicina (kaunas, Lithuania), 2022

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.

Sher M et al.

The International Journal of Neuroscience, 2019

30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
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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."