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AlphaGenome identifies a deep intronic variant in a family with PLA2G6-associated neurodegeneration: Closing the diagnostic gap in rare genetic diseases

Eger SJ, López G, Gómez Navarro LF, Peña-Tauber A, Cochran JN, Hiatt SM, Gelvez N, García-García M, Lobo S, Greicius MD, Matallana DL, Acosta-Uribe J, Kosik KS.

· 2026-06-18

DOI: 10.64898/2026.06.10.26355004

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.

Records come from scientific sources. Bibliographic counts do not represent completed translations or editorial approvals.

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