Varaico: Literature-Extracted Genetic Variants

Gene:RELN
Variant:p.R2955C
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RELN

NM_005045.4:p.R2955C

Associated Papers

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable4

Patient-derived rhabdomyosarcoma cells recapitulate the genetic and transcriptomic landscapes of primary tumors.

Hu Y et al.

Iscience, 2024

39319271 (PubMed )
Supplement: mmc6.xlsx › Table_S5

Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.

Zou H et al.

Frontiers in Genetics, 2024

39906551 (PubMed )
Supplement: Table1.xlsx › Table_S1

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.

Patil VA et al.

Clinical Endocrinology, 2022

36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

Identification of potential causal variants for premature ovarian failure by whole exome sequencing.

Jin H et al.

Bmc Medical Genomics, 2020

33109206 (PubMed )
Supplement: 12920_2020_813_MOESM1_ESM.xlsx › Table_S4

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM5_ESM.xlsx › Supplementary_Data_3

[Targeted sequencing analysis of hyper-eosinophilic syndrome and chronic eosinophilic leukemia].

Qu SQ et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018

A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.

Nikolaev SI et al.

Cancer Research, 2012

23204322 (PubMed )
Supplement: 00085472can123869-sup-stab_3_xls_457k_rev.xls › Suppl_Table_S3.csv
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."