Varaico: Literature-Extracted Genetic Variants

Gene:HSPG2
Variant:p.H748Q
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HSPG2

NM_005529.7:p.H748Q

Associated Papers

Case report: genetic analysis of a child with 18q deletion syndrome and developmental dysplasia of the hip.

Yu S et al.

Bmc Medical Genomics, 2022

Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome.

Guo QH et al.

Journal of Cellular and Molecular Medicine, 2017

28707430 (PubMed )
Supplement: JCMM-21-3626-s002.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."