Varaico: Literature-Extracted Genetic Variants

Gene:MED1
Variant:p.N295S
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MED1

NM_004774.4:p.N295S

Associated Papers

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Kim A et al.

Brain : a Journal of Neurology, 2019

30508070 (PubMed )
Supplement: awy290_supplementary_table_s1.pdf

Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.

Muller E et al.

Cancer Medicine, 2015

26155992 (PubMed )
Supplement: cam40004-1484-sd2.xlsx › supplementaryTab_S2
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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."