Connection

CHRISTINE ENG to Loss of Function Mutation

This is a "connection" page, showing publications CHRISTINE ENG has written about Loss of Function Mutation.
Connection Strength

0.215
  1. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Hum Mutat. 2019 03; 40(3):267-280.
    View in: PubMed
    Score: 0.140
  2. Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.
    View in: PubMed
    Score: 0.041
  3. De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. Hum Genet. 2018 Mar; 137(3):257-264.
    View in: PubMed
    Score: 0.033
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.