Varaico: Literature-Extracted Genetic Variants

Gene:ENTPD1
Variant:p.L274_W275delFs
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ENTPD1

NM_001164178.1:p.L274_W275delFs

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG64

Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.

Vaseghi P et al.

European Journal of Human Genetics : Ejhg, 2024

The challenges in the interpretation of genetic variants detected by genomics techniques in patients with congenital anomalies.

Vaseghi H et al.

Journal of Clinical Laboratory Analysis, 2023

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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."