Connection

SARAH ELSEA to Homozygote

This is a "connection" page, showing publications SARAH ELSEA has written about Homozygote.
Connection Strength

0.491
  1. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb; 173(2):460-470.
    View in: PubMed
    Score: 0.456
  2. Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. Bone. 2020 04; 133:115219.
    View in: PubMed
    Score: 0.035
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.