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OMIC-08. COMPOUND HETEROZYGOSITY OF POLE AND PMS2 LEADS TO CMMRD-LIKE PHENOTYPE- “POLYNCH” SYNDROME
OMIC-08. COMPOUND HETEROZYGOSITY OF POLE AND PMS2 LEADS TO CMMRD-LIKE PHENOTYPE- “POLYNCH” SYNDROME
2021
Orli Michaeli
Hagay Ladany
Yosef E Maruvka
Ayelet Erez
Shay Ben Shachar
Shai Izraeli
Yael Goldberg
Helen Toledano
Keywords:
protein p53
Heterozygote advantage
Genetics
Biology
DNA mismatch repair
Compound heterozygosity
signs and symptoms
childhood cancer
PMS2
Phenotype
Correction
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