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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.

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RPL3L and cardiomyopathy are reported together in 1 article.

Gene

RPL3L

HGNC
HGNC:10351
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
HPO
HP:0001638
618articles
618mentions
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 60

Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.

PMID 32870709 | DOI 10.1161/CIRCGEN.120.002969 · Circulation. Genomic and precision medicine · 2020 · 10 validated mentions
TypeEntitySource evidenceConfidenceExtractor
geneRPL3L“Homozygous variants were also detected in 7 novel candidates (ACACB, AASDH, CASZ1, FLII, RHBDF1, RPL3L, ULK1).”0.98hgnc_dict_v1
phenotypecardiomyopathy“Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.”0.98phenotype_alias_lexicon_v2
geneACACB“Homozygous variants were also detected in 7 novel candidates (ACACB, AASDH, CASZ1, FLII, RHBDF1, RPL3L, ULK1).”0.98hgnc_dict_v1
geneAASDH“Homozygous variants were also detected in 7 novel candidates (ACACB, AASDH, CASZ1, FLII, RHBDF1, RPL3L, ULK1).”0.98hgnc_dict_v1