Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.C897Y
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SCN9A

NM_001365536.1:p.C897Y

Associated Papers

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Lischka A et al.

Brain : a Journal of Neurology, 2023

37769650 (PubMed )
Supplement: awad328_supplementary_data.zip › brain-2023-00799-File006.xlsx › Tabelle1

Novel SCN9A variant associated with congenital insensitivity to pain.

Yammine T et al.

Molecular Biology Reports, 2023

Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.

Cintra VP et al.

Journal of the Neurological Sciences, 2021

A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment.

Romagnuolo M et al.

Pediatric Dermatology, 0

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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."