Varaico: Literature-Extracted Genetic Variants

Gene:SHKBP1
Variant:p.A207T
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SHKBP1

NM_138392.4:p.A207T

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7

Identification of potential causal variants for premature ovarian failure by whole exome sequencing.

Jin H et al.

Bmc Medical Genomics, 2020

33109206 (PubMed )
Supplement: 12920_2020_813_MOESM1_ESM.xlsx › Table_S4

Energy metabolism and whole-exome sequencing-based analysis of Sasang constitution: a pilot study.

Kim HK et al.

Integrative Medicine Research, 2017

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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."