Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC1
Variant:p.Q1018_V1019Splc
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SH3TC1

NM_001318480.2:p.Q1018_V1019Splc

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

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene.

Bacchelli E et al.

Journal of Clinical Medicine, 2019

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