Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.S350T
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ACTB

NM_001101.5:p.S350T

Associated Papers

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Latham SL et al.

Nature Communications, 2018

30315159 (PubMed )
Supplement: 41467_2018_6713_MOESM1_ESM.pdf
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