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R544C mutation in exon11 was prevalent (45.0%).
An adult onset patient with CM/ISM presented V560G mutation in exon11, which has previously been reported in 2 adults, 1 CM and 1 SM [10].
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In KRAS-mutated samples, 20% had an additional mutation in PIK3CA.
Only 30,000 of more than 250,000 American women estimated to carry a mutation in BRCA1 or a related gene, BRCA2, have so far been tested.
About half of women who inherit a harmful mutation in BRCA1 or BRCA2 will develop breast cancer by the age of 70.
The red characters indicate the SNP mutation in OsLAP6 gene.
After genetic counseling, germline testing for MMR (MLH1 and MSH2) gene revealed no mutation in MLH1 and p.G40S (GGC > AGC) mutation in MSH2 in heterozygote.
SW-13 is heterozygous for a mutation in p53 while H295R is wild-type for p53.
Genetic studies have identified a homozygous truncation mutation in Trak1 that causes hypertonia in mice.
The S228P mutation in βB1-crystallin has been linked to autosomal dominant congenital nuclear cataract.
We examined a family with a FHM phenotype due to a M731T mutation in ATP1A2.
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