Varaico: Literature-Extracted Genetic Variants

Gene:SCN7A
Variant:p.R683Q
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SCN7A

NM_002976.4:p.R683Q

Associated Papers

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Marianski K et al.

Human Genetics, 2025

41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1

Human papillomavirus integration perspective in small cell cervical carcinoma.

Wang X et al.

Nature Communications, 2022

36216793 (PubMed )
Supplement: 41467_2022_33359_MOESM21_ESM.xlsx › Supplementary_Data18

Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.

Suárez-González J et al.

Bmc Medical Genomics, 2021

33771153 (PubMed )
Supplement: 12920_2021_943_MOESM2_ESM.xls › Retained_Variants

Genomic analysis of 21 patients with corneal neuralgia after refractive surgery.

Yuan JH et al.

Pain Reports, 0

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