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40 The sequencing data indicated that both the wild-type and mutated alleles were present in tumor tissues – suggesting that the mutation was heterozygous.
Although the mutation was heterozygous, he was diagnosed with CTLN2 based on the mutation, recurrent symptoms, hyperammonemia, and hepatic encephalopathy.
This mutation was heterozygous in the healthy mother.
In the parents of patients III-1, III-3 and II-15 and 9 family members the mutation was heterozygous.
In every case, the mutation was heterozygous and targeted one of two contiguous amino acid residues (N244 or G245) within the predicted kinase domain.
Similar(55)
All of these mutation are heterozygous.
The presence of a double peak (thymidine and cytosine) indicates that the mutation is heterozygous, consistent with the original report [19].
Most tumors that contained the mutation were heterozygous, containing also the wild-type transcript (example in Fig. 6d).
55, 63, 65, 66, 70 KIT or PDGFRA mutations are heterozygous in 95% of mutated GISTs.
Additionally, the majority of mutations are heterozygous, indicating that both genes most likely function as haploinsufficient tumor suppressors.
Interestingly, the majority of mutations are heterozygous, truncating, and evenly spread along the protein, suggesting a possible role as a haploinsufficient tumor suppressor.
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