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LZTR1 and Noonan syndrome are reported together in 1 article.
Gene
LZTR1
- HGNC
- HGNC:6742
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Noonan syndrome
8articles
8mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
PMID 29469822 | PMCID PMC6105555 | DOI 10.1038/gim.2017.249 · Genetics in medicine : official journal of the American College of Medical Genetics · 2018 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LZTR1 | “Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.” | 0.98 | hgnc_dict_v1 |
| phenotype | Noonan syndrome | “Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | leukemia | “The phenotypic range included mildly affected patients, but it was lethal in some, with cardiac disease and leukemia.” | 0.98 | phenotype_alias_lexicon_v2 |