https://deubiquitinase.com/rad....iation-therapy-with-
Variant c.1907TA (p.V636E) ended up being passed down through the patient's mama, while variant c.1979AC (p.H660P) seems to have originated de novo. Evaluation with bioinformatics resources indicated that both variations tend to be pathogenic. Both amino acidic changes affect the structure of the OCRL1 ASH domain. In closing, the identification of two book missense mutations found in the OCRL1 ASH domain may shed even more light regarding the functional nee
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