Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
ACMG/AMP variant interpretation guideline
RS1
X-linked disorder
X-linked retinoschisis (XLRS)
founder effect
haplotype analysis
variant classification
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
12 04 2022
12 04 2022
Historique:
received:
07
03
2022
revised:
06
04
2022
accepted:
06
04
2022
entrez:
23
4
2022
pubmed:
24
4
2022
medline:
27
4
2022
Statut:
epublish
Résumé
For disorders with X-linked inheritance, variants may be transmitted through multiple generations of carrier females before an affected male is ascertained. Pathogenic
Identifiants
pubmed: 35456481
pii: genes13040675
doi: 10.3390/genes13040675
pmc: PMC9029724
pii:
doi:
Substances chimiques
Eye Proteins
0
Banques de données
ClinicalTrials.gov
['NCT02471287', 'NCT00378742']
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Intramural NIH HHS
ID : ZIA EY000565
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA EY000564
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIC EY000478
Pays : United States
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