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Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco–Sjögren syndrome

✍ Scribed by Makoto Eriguchi; Haruo Mizuta; Kazuhiro Kurohara; Junko Fujitake; Yasuo Kuroda

No coin nor oath required. For personal study only.

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Identification of a point mutation (G727

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