Varaico: Literature-Extracted Genetic Variants

Gene:SETD1A
Variant:p.Q1527_G1528Splc
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SETD1A

NM_014712.3:p.Q1527_G1528Splc

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

A case of bipolar I disorder with a loss-of-function variant of schizophrenia risk gene SETD1A: possible expansion of the relevant clinical spectrum supported by a meta-analysis.

Hara T et al.

Psychiatry and Clinical Neurosciences, 2024

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