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

Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.

Genes - 11 Sept 2022

Rabia Ansa, Harripaul Ricardo, Mikhailov Anna, Mahmood Saqib, Maqbool Shazia, Vincent John B, Ayub Muhammad

Abstract excerpt

The genetic dissection of autism spectrum disorders (ASD) has uncovered the contribution of de novo mutations in many single genes as well as de novo copy number variants. More recent work also suggests a strong contribution from recessively inherited variants, particularly in populations in which consanguineous marriages are common. What is also becoming more apparent is the degree of pleiotropy, whereby...

Read the complete abstract on PubMed

Topics

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

Share to Autism Spectrum Disorder
Share to Loss of Function Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pakistan

Source

Open in PubMed Open full text

Identifiers

PMID: 36140801
DOI: 10.3390/genes13091633
PMCID: PMC9498319

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.PMID 36140801Read ↗

Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genesSemantic proximity Read ↗

Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.Semantic proximity Read ↗

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.Semantic proximity Read ↗

Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.Semantic proximity Read ↗

Autism Spectrum Disorder Caused by a Novel De Novo SCN2A Mutation: A Case Report.Semantic proximity Read ↗

Whole Exome Sequencing on a multiplex family of Indian origin identifies mutations at 17p11.2 in siblings with autism spectrum disorders: implications to understanding the pathophysiology from syndromic variants.Semantic proximity Read ↗

Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohortSemantic proximity Read ↗

Identification of genetic variants and their causal association underlying autism spectrum disorderSemantic proximity Read ↗

Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform.Semantic proximity Read ↗

Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.Semantic proximity Read ↗

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.Semantic proximity Read ↗

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.Semantic proximity Read ↗

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