Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP2
Variant:p.Y585C
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CNTNAP2

NM_014141.6:p.Y585C

Associated Papers

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

van der Laan L et al.

Hgg Advances, 2024

38571311 (PubMed )
Supplement: mmc3.pdf
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