Varaico: Literature-Extracted Genetic Variants

Gene:SRRM2
Variant:p.S2398_P2399del1
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SRRM2

NM_016333.4:p.S2398_P2399del1

Associated Papers

Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.

Lou Y et al.

Molecular Genetics & Genomic Medicine, 2024

38337158 (PubMed )
Supplement: MGG3-12-e2389-s001.xlsx › Sheet1
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