NPC2
HGNC:14537 · SaudiVarKB evidence summary derived from retained literature mentions.
1Gene mentions
1Publications
0Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in NPC2 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| Niemann-Pick disease | — | 1 | 1 |
Linked variants
Variants normalized to NPC2| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|
No structured population context is available.
Supporting publications
1 records- 2022A Niemann-Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report.Children (Basel, Switzerland)PubMed ↗