Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN5
Variant:p.R3401Q
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SPTBN5

NM_016642.4:p.R3401Q

Associated Papers

Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome.

Nishina S et al.

Journal of Human Genetics, 2021

33640901 (PubMed )
Supplement: 10038_2021_909_MOESM1_ESM.xlsx › Supple
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