Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.L313P
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L1CAM

NM_001278116.2:p.L313P

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG1

Adducted thumbs: a clinical clue to genetic diagnosis.

Verhagen JM et al.

European Journal of Medical Genetics, 2013

An updated and upgraded L1CAM mutation database.

Vos YJ et al.

Human Mutation, 2010

Holoprosencephaly: the Maastricht experience.

Moog U et al.

Genetic Counseling (geneva, Switzerland), 2001

Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.

Verhagen JM et al.

European Journal of Medical Genetics, 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."