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1 records shown · first 60Identification of Causative Variants Contributing to Nonsyndromic Orofacial Clefts Using Whole-Exome Sequencing in a Saudi Family.
PMID 33121284 | DOI 10.1089/gtmb.2019.0233 · Genetic testing and molecular biomarkers · 2020 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs35320960 | “Results: The exome analysis revealed NRP1 (rs35320960) as one potential candidate gene that is involved in bone differentiation.” | 0.90 | hgvs_regex_v1 |
| gene | NRP1 | “Results: The exome analysis revealed NRP1 (rs35320960) as one potential candidate gene that is involved in bone differentiation.” | 0.98 | hgnc_dict_v1 |
| gene | RPL27A | “The RPL27A gene (rs199996172), which plays a crucial role in ribosome biogenesis, also passed all filters to serve as a candidate gene for NSOFC in this family.” | 0.98 | hgnc_dict_v1 |
| phenotype | cleft lip and palate | “They are classified into three types: (a) cleft palate, (b) cleft lip, and (c) cleft lip and palate.” | 0.98 | phenotype_alias_lexicon_v2 |