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並前往https://databases.lovd.nl/shared/variants/LARGE/unique

Unique variants in the LARGE gene - Global Variome shared ...

‑/ 1 ‑ c.‑240C>T r.(?) p.(=) g.34316077G>A +/ 1 2i_10i c.‑83+31477_1131+3394del r.‑82_1131del p.? g.33774511_34221251del +/ 1 ‑ c.(?_‑83+31477)_*1351del r.0? p.0? g.(?_3774511)_(34221251... ‑/ 2 3 c.‑63C>T r.(?) p.(=) g.34157526G>A

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