Publications:

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.

Translational Neurodegeneration

Cheng, Hao-Ling HL; Shao, Ya-Ru YR; Dong, Yi Y; Dong, Hai-Lin HL; Yang, Lu L; Ma, Yin Y; Shen, Ying Y; Wu, Zhi-Ying ZY

Publication Date: 2021-10-18

Variant appearance in text: ATM: S974fs

PubMed Link: 34663476

Variant Present in the following documents:

• Main text
• 40035_2021_Article_264.pdf

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Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Bmc Cancer

Casula, Milena M; Paliogiannis, Panagiotis P; Ayala, Fabrizio F; De Giorgi, Vincenzo V; Stanganelli, Ignazio I; Mandalà, Mario M; Colombino, Maria M; Manca, Antonella A; Sini, Maria Cristina MC; Caracò, Corrado C; Ascierto, Paolo Antonio PA; Satta, Rosanna Rita RR; , ; Lissia, Amelia A; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-05

Variant appearance in text: N/A

PubMed Link: 31382929

Variant Present in the following documents:

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