Varaico: Literature-Extracted Genetic Variants

Gene:SLCO6A1
Variant:p.D32N
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SLCO6A1

NM_173488.5:p.D32N

Associated Papers

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.

Asif M et al.

Hgg Advances, 2022

35571680 (PubMed )
Supplement: mmc1.pdf

FKBP12.6 activates RyR1: investigating the amino acid residues critical for channel modulation.

Venturi E et al.

Biophysical Journal, 2014

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