Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB6
Variant:p.A1457T
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EFCAB6

NM_022785.4:p.A1457T

Associated Papers

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment.

Schrauwen I et al.

Genes, 2020

32585897 (PubMed )
Supplement: genes-11-00687-s001.zip › Table_S1.xlsx › Suppl_Table_1

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 3._co-segregation
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