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Beagles with the same mutation are reported to have a milder phenotype [21], [33].
The silent codon 260 mutation are reported in two different cancer tissues; lung (SCLC) and colorectal carcinoma.
Similar(58)
This mutation is reported to destabilize the tetrameric structure of p53.
Although this mutation was reported in clinical cases (Drepper et al., 2011; Lai et al., 2011), the underlying pathogenic mechanism was unknown.
Recently, a pathogenic dyskerin mutation was reported to cause DC-like symptoms in mice [26].
The p.Arg392Cys mutation was reported in co-segregation with hyperglycemia in pregnancy [33].
This molecule interacted genetically with Appl and is structurally similar to mouse NTKL/SCYL1, whose mutation was reported to cause neurodegeneration.
S216L mutation was reported to cause AI.
This mutation is reported only once in the BIC database.
This second mutation was reported to be a purRS super-repressor mutation.
The method to detect mutation was reported in our previous report [ 11].
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