Literature record
Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects.
PMID 39725565 | DOI 10.1111/cge.14680 · Clinical genetics · 2025
Biallelic loss of function variant in SEC31A is associated with lethal neurodevelopmental disorder, dysmorphic features, and skeletal defects.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SEC31A | “Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects.” | 0.98 | phenotype_alias_lexicon_v2 |