Associated Papers
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.
Hadjipanteli A et al.
Genes, 2024
38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_1__manuscript_supplementary_material_.xlsx › Variant_details
KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.
Anastasaki C et al.
Oncotarget, 2017
28548933 (PubMed )
Supplement: oncotarget-08-47574-s002.xlsx › Sheet1
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
Nava C et al.
Amino Acids, 2015
26215737 (PubMed )
Supplement: 726_2015_2057_MOESM2_ESM.xlsx › Sup_Table_3
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
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