Connection

OGUZ KANCA to Alleles

This is a "connection" page, showing publications OGUZ KANCA has written about Alleles.
Connection Strength

0.230
  1. Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder. Genet Med. 2026 Apr; 28(4):101685.
    View in: PubMed
    Score: 0.042
  2. Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models. HGG Adv. 2026 Jan 15; 7(1):100541.
    View in: PubMed
    Score: 0.041
  3. Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders. Dis Model Mech. 2025 07 01; 18(7).
    View in: PubMed
    Score: 0.040
  4. Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome. J Genet Genomics. 2025 10; 52(10):1189-1198.
    View in: PubMed
    Score: 0.040
  5. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 07; 26(7):101125.
    View in: PubMed
    Score: 0.037
  6. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 09 02; 108(9):1669-1691.
    View in: PubMed
    Score: 0.031
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.