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. 2021 Aug 5;12:700342. doi: 10.3389/fendo.2021.700342

Table 5.

Sanger sequencing results of candidate gene loci in family members of the proband.

GENE HGVSc HGVSp Member of family ALT REF
GCK c.1160C > T p.Ala387Val I-2 T C
II-1 C C
II-2 T C
II-4 C C
III-1 T C

HGVSc, human genome variation society cDNA; HGVSp, human genome variation society protein; ALT, alternative; REF, Reference; C, cytosine; T, thymine.