ABCA1 p.Thr940Met

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PMID: 26546829 [PubMed] Ramasamy I et al: "Update on the molecular biology of dyslipidemias."
No. Sentence Comment
1061 One patient was identified to be homozygous for a nonsense mutation p. Q1038X, a further kindred showed compound heterozygosity for missense variants p. R937V and p.T940M, and a third pedigree was compound heterozygous for a frameshift variant p.I1200Hfs*4 and an intronic variant that lead to the creation of a cryptic splice site and premature truncation p. S1392Rfs*6.
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ABCA1 p.Thr940Met 26546829:1061:165
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