Hypothesis

7 Matching Annotations

Jun 2026
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Functional Analyses in Patient‐Derived Neurons Establish Pathogenicity for STXBP1 Splice Variant c.429+5G>A

1
1. scibot 18 Jun 2026
  
  in Public
  
  Addgene_32484
  
  DOI: 10.1155/humu/1448702
  
  Resource: RRID:Addgene_32484
  
  Curator: @scibot
  
  SciCrunch record: RRID:Addgene_32484
  
  What is this?
  
  RRID:Addgene_32484
Visit annotations in context

Tags

RRID:Addgene_32484

Annotators

scibot

URL

pmc.ncbi.nlm.nih.gov/articles/PMC13270418/
Jul 2025
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

NXT2 is a key component of the RNA nuclear export factor complex in the human testis and essential for spermatogenesis

1
1. scibot 20 Jul 2025
  
  in Public
  
  plasmid_32484
  
  DOI: 10.1038/s41467-025-61463-0
  
  Resource: RRID:Addgene_32484
  
  Curator: @scibot
  
  SciCrunch record: RRID:Addgene_32484
  
  What is this?
  
  RRID:Addgene_32484
Visit annotations in context

Tags

RRID:Addgene_32484

Annotators

scibot

URL

pmc.ncbi.nlm.nih.gov/articles/PMC12234887/
Jun 2025
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Genotype-specific differences in infertile men due to loss-of-function variants in M1AP or ZZS genes

1
1. scibot 15 Jun 2025
  
  in Public
  
  plasmid_32484
  
  DOI: 10.1038/s44321-025-00244-0
  
  Resource: RRID:Addgene_32484
  
  Curator: @scibot
  
  SciCrunch record: RRID:Addgene_32484
  
  What is this?
  
  RRID:Addgene_32484
Visit annotations in context

Tags

RRID:Addgene_32484

Annotators

scibot

URL

pmc.ncbi.nlm.nih.gov/articles/PMC12162868/
May 2025
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome

1
1. scibot 16 May 2025
  
  in Public
  
  32484
  
  DOI: 10.1172/jci.insight.188014
  
  Resource: RRID:Addgene_32484
  
  Curator: @olekpark
  
  SciCrunch record: RRID:Addgene_32484
  
  What is this?
  
  RRID:Addgene_32484
Visit annotations in context

Tags

RRID:Addgene_32484

Annotators

scibot

URL

pmc.ncbi.nlm.nih.gov/articles/PMC11981616/
Aug 2024
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility

1
1. scibot 22 Aug 2024
  
  in Public
  
  plasmid_32484
  
  DOI: 10.1038/s41467-024-50930-9
  
  Resource: RRID:Addgene_32484
  
  Curator: @scibot
  
  SciCrunch record: RRID:Addgene_32484
  
  What is this?
  
  RRID:Addgene_32484
Visit annotations in context

Tags

RRID:Addgene_32484

Annotators

scibot

URL

ncbi.nlm.nih.gov/pmc/articles/PMC11316121/
Nov 2022
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Genetic risk variants for multiple sclerosis are linked to differences in alternative pre-mRNA splicing

1
1. scibot 19 Nov 2022
  
  in Public
  
  RRID:Addgene_32484
  
  DOI: 10.3389/fimmu.2022.931831
  
  Resource: RRID:Addgene_32484
  
  Curator: @scibot
  
  SciCrunch record: RRID:Addgene_32484
  
  What is this?
  
  RRID:Addgene_32484
Visit annotations in context

Tags

RRID:Addgene_32484

Annotators

scibot

URL

ncbi.nlm.nih.gov/pmc/articles/PMC9670805/
Sep 2021
www.sciencedirect.com www.sciencedirect.com

Full-length isoform transcriptome of the developing human brain provides further insights into autism

1
1. scibot 02 Sep 2021
  
  in Public
  
  32484
  
  DOI: 10.1016/j.celrep.2021.109631
  
  Resource: RRID:Addgene_32484
  
  Curator: @Naa003
  
  SciCrunch record: RRID:Addgene_32484
  
  What is this?
  
  RRIDCUR:Missing RRID:Addgene_32484
Visit annotations in context

Tags

RRID:Addgene_32484

RRIDCUR:Missing

Annotators

scibot

URL

sciencedirect.com/science/article/pii/S2211124721010743