Varaico: Literature-Extracted Genetic Variants

Gene:SMPD4
Variant:p.H176_V177del2
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SMPD4

NM_017951.5:p.H176_V177del2

Associated Papers

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

French CE et al.

Hgg Advances, 2022

35586607 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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