Varaico: Literature-Extracted Genetic Variants

Gene:MLC1
Variant:p.L307_L310del0
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MLC1

NM_015166.4:p.L307_L310del0

Associated Papers

Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.

Koprulu M et al.

The Yale Journal of Biology and Medicine, 2023

37780995 (PubMed )
Supplement: yjbm_96_3_367_appendixB.xlsx › Sheet1

Neurite Outgrowth Inhibitor (NogoA) Is Upregulated in White Matter Lesions of Complex Cortical Malformations.

Scholl T et al.

Journal of Neuropathology and Experimental Neurology, 2021

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