Published November 2, 2023 | Version v1
Dataset Open

Clinical and genetic findings in an Italian cohort of individuals with congenital cataract

Authors/Creators

  • 1. IRCCS Mondino Foundation
  • 2. ROR icon Fondazione Istituto Neurologico Nazionale Casimiro Mondino
  • 3. ROR icon University of Pavia
  • 4. ROR icon Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda

Description

List of variants and associated clinical phenotypes identified in a cohort of individuals affected by congenital cataract (syndromic and non-syndromic forms) that have been submitted to the public ClinVar repository (https://www.ncbi.nlm.nih.gov/clinvar/) with their corresponding accession numbers.

Files

ClinVar accession numbers of identified variants in the cohort of individuals with congenital cataract.pdf

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