Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP1
Variant:p.C968fs
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CNTNAP1

NM_003632.3:p.C968fs

Associated Papers

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.

Sell LB et al.

Muscle & Nerve, 2026

Genome sequencing as a first-line diagnostic test for hospitalized infants.

Bowling KM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1

Mutations of CNTNAP1 led to defects in neuronal development.

Li W et al.

Jci Insight, 2020

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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."