Varaico: Literature-Extracted Genetic Variants

Gene:SRBD1
Variant:p.A8V
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SRBD1

NM_018079.5:p.A8V

Associated Papers

An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.

Rafiullah R et al.

Journal of Neurogenetics, 0

36508181 (PubMed )
Supplement: supplement_1.xlsx › Table_of_filtered_variants
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