Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.

Human mutation - 1 Nov 2021

Mikó Ágnes, Kaposi Ambrus, Schnabel Karolina, Seidl Dániel, Tory Kálmán

Abstract excerpt

We aimed to identify incompletely penetrant (IP) variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach. Genotype and clinical data were collected from 9038 patients of European origin with ASL, ATP7B, CAPN3, CFTR, CTNS, DHCR7, GAA, GALNS, GALT, IDUA, MUT, NPHS1, NPHS2, PAH, PKHD1, PMM2, or SLC26A4-related disorders. We calculated the relative allele frequency of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genes, Lethal

Share to Genes, Recessive

Share to Genetic Diseases, Inborn

Share to Genetics, Population

Source

Identifiers

PMID: 34405919
DOI: 10.1002/humu.24273

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.PMID 34405919Read ↗

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.Semantic proximity Read ↗

Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia.Semantic proximity Read ↗

The genetic landscape of the human solute carrier (SLC) transporter superfamilySemantic proximity Read ↗

Genetic screening for low-penetrance variants in protein-coding genes.Semantic proximity Read ↗

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through MissplicingSemantic proximity Read ↗

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.Semantic proximity Read ↗

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesSemantic proximity Read ↗

Bayesian approach to determining penetrance of pathogenic SDH variants.Semantic proximity Read ↗

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.Semantic proximity Read ↗

Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.Semantic proximity Read ↗

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.Semantic proximity Read ↗

SOX17 Loss-of-Function Mutation Underlying Familial Pulmonary Arterial HypertensionSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.