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Academic Journal

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Authors : Rehman, A.U.; Najafi, M.; Kambouris, M.

Subjects: Adult; Alleles; Child

Source: Human mutation, vol. 40, no. 3, pp. 267-280

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Academic Journal

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Authors : Dias, Cristina; Estruch, Sara B; Graham, Sarah A

Subjects: Animals; Carrier Proteins/chemistry; Cerebral Cortex/metabolism

Source: Dias , C , Estruch , S B , Graham , S A , McRae , J , Sawiak , S J , Hurst , J A , Joss , S K , Holder , S E , Morton , J E V , Turner , C , Thevenon , J , Mellul , K , Sánchez-Andrade , G ,

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BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Authors : Gabriela Sánchez-Andrade; Susan E. Holder; Jeremy F. McRae ...

Subjects: 0301 basic medicine; Male; Haploinsufficiency/genetics

Source: The American Journal of Human GeneticsAmerican Journal of Human GeneticsAmerican Journal of Human

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