Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.V2610V
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LAMA2

NM_000426.4:p.V2610V

Associated Papers

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).

Jayakody H et al.

Journal of Neuropathology and Experimental Neurology, 2020

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