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1.
[Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(11): 1392-1396, 2023 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37906148
2.
[Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(2): 162-165, 2020 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32034746
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