Varaico: Literature-Extracted Genetic Variants

Gene:LSS
Variant:p.L131L
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LSS

NM_002340.6:p.L131L

Associated Papers

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.

Elbendary HM et al.

Clinical Genetics, 2023

A case of LSS-associated congenital nuclear cataract with hypotrichosis and literature review.

Guo D et al.

American Journal of Medical Genetics. Part A, 2023

Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.

Cesarato N et al.

American Journal of Medical Genetics. Part A, 2021

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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."