Varaico: Literature-Extracted Genetic Variants

Gene:LRSAM1
Variant:p.R530W
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LRSAM1

NM_001005373.4:p.R530W

Associated Papers

Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.

Itai T et al.

Hgg Advances, 2024

38807368 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Novel Report of Ophthalmoparesis Associated With CMT Type 2P Secondary to LRSAM1 Mutation.

Modersitzki NK et al.

Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2023

Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.

Ishorst N et al.

Molecular Genetics & Genomic Medicine, 2023

36468602 (PubMed )
Supplement: MGG3-11-e2109-s001.pdf
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