Publications:

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

Jimd Reports

Jilani, Abdulhakim A; Matviychuk, Diana D; Blaser, Susan S; Dyack, Sarah S; Mathieu, Jean J; Prasad, Asuri N AN; Prasad, Chitra C; Kyriakopoulou, Lianna L; Mercimek-Andrews, Saadet S

Publication Date: 2019-11

Variant appearance in text: CLN5: 320+5G>C

PubMed Link: 31741823

Variant Present in the following documents:

• Main text

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