Varaico: Literature-Extracted Genetic Variants

Gene:NALCN
Variant:p.A1185T
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NALCN

NM_052867.4:p.A1185T

Associated Papers

Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review.

Chen Y et al.

Frontiers in Pediatrics, 2024

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.

Vissers LELM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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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."